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Wyszukujesz frazę ""Gene Frequency"" wg kryterium: Temat


Tytuł:
Polygenic architecture of rare coding variation across 394,783 exomes.
Autorzy:
Weiner DJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. .; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
Nadig A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. .; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
Jagadeesh KA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Dey KK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Robinson EB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
O'Connor LJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
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Źródło:
Nature [Nature] 2023 Feb; Vol. 614 (7948), pp. 492-499. Date of Electronic Publication: 2023 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
Genetic Variation*/genetics
Multifactorial Inheritance*/genetics
Gene Frequency*
Humans ; Genome-Wide Association Study ; Risk Factors ; United Kingdom ; Genetic Loci/genetics ; Schizophrenia/genetics ; Bipolar Disorder/genetics
Czasopismo naukowe
Tytuł:
FinnGen provides genetic insights from a well-phenotyped isolated population.
Autorzy:
Kurki MI; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Karjalainen J; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Palta P; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Sipilä TP; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kristiansson K; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Donner KM; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Reeve MP; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Laivuori H; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Obstetrics and Gynecology, Tampere University Hospital, Tampere, Finland.; Faculty of Medicine and Health Technology, Center for Child, Adolescent and Maternal Health, University of Tampere, Tampere, Finland.
Aavikko M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kaunisto MA; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Loukola A; Helsinki Biobank, University of Helsinki and Hospital District of Helsinki and Uusimaa, Helsinki, Finland.
Lahtela E; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Mattsson H; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Laiho P; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Della Briotta Parolo P; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Lehisto AA; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kanai M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Mars N; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Rämö J; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kiiskinen T; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Heyne HO; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Digital Health Center, Hasso Plattner Institute for Digital Engineering, University of Potsdam Potsdam, Potsdam, Germany.; Hasso Plattner Institute for Digital Health at Mount Sinai, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Veerapen K; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Rüeger S; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Lemmelä S; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Zhou W; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Ruotsalainen S; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Pärn K; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Hiekkalinna T; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Koskelainen S; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Paajanen T; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Llorens V; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Gracia-Tabuenca J; TAUCHI Research Center, Faculty of Information Technology and Communication Sciences, Tampere University, Tampere, Finland.
Siirtola H; TAUCHI Research Center, Faculty of Information Technology and Communication Sciences, Tampere University, Tampere, Finland.
Reis K; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Elnahas AG; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Sun B; Translational Biology, Research and Development, Biogen, Cambridge, MA, USA.; BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Foley CN; Optima Partners, Edinburgh, UK.; MRC Biostatistics Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Aalto-Setälä K; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Alasoo K; Institute of Computer Science, University of Tartu, Tartu, Estonia.
Arvas M; Finnish Red Cross Blood Service, Helsinki, Finland.
Auro K; GlaxoSmithKline, Espoo, Finland.
Biswas S; Bristol Myers Squibb, New York, NY, USA.
Bizaki-Vallaskangas A; Tampere University Hospital and Tampere University, Tampere, Finland.
Carpen O; Helsinki Biobank, University of Helsinki and Hospital District of Helsinki and Uusimaa, Helsinki, Finland.
Chen CY; Biogen, Cambridge, MA, USA.
Dada OA; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Ding Z; Boehringer Ingelheim, Ingelheim am Rhein, Germany.
Ehm MG; GlaxoSmithKline, Collegeville, PA, USA.
Eklund K; Division of Rheumatology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.; Orton Orthopedic Hospital, Helsinki, Finland.
Färkkilä M; Abdominal Center, Helsinki University Hospital, Helsinki University, Helsinki, Finland.
Finucane H; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Ganna A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Ghazal A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Graham RR; Maze Therapeutics, South San Francisco, CA, USA.
Green EM; Maze Therapeutics, South San Francisco, CA, USA.
Hakanen A; Auria Biobank, University of Turku and Turku University Hospital, Turku, Finland.
Hautalahti M; FINBB, Finnish Biobank Cooperative, Helsinki, Finland.
Hedman ÅK; Pfizer, New York, NY, USA.; Department of Medicine, Karolinska Institute, Solna, Sweden.
Hiltunen M; Clinical Biobank Tampere, Tampere University and Tampere University Hospital, Tampere, Finland.
Hinttala R; Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Biocenter Oulu, University of Oulu, Oulu, Finland.; Oulu University Hospital, Oulu, Finland.
Hovatta I; Department of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; SleepWell Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Hu X; Pfizer, New York, NY, USA.
Huertas-Vazquez A; Merck & Co, Kenilworth, NJ, USA.
Huilaja L; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Dermatology and Medical Research Center Oulu, Oulu University Hospital, Oulu, Finland.
Hunkapiller J; Genentech, San Francisco, CA, USA.
Jacob H; AbbVie, Chicago, IL, USA.
Jensen JN; Boehringer Ingelheim, Ingelheim am Rhein, Germany.
Joensuu H; Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
John S; Biogen, Cambridge, MA, USA.
Julkunen V; Neuro Center, Neurology, Kuopio University Hospital, Kuopio, Finland.; Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.
Jung M; Boehringer Ingelheim, Ingelheim am Rhein, Germany.
Junttila J; Northern Finland Biobank Borealis, University of Oulu, Northern Ostrobothnia Hospital District, Oulu, Finland.
Kaarniranta K; Department of Ophthalmology, Kuopio University Hospital, Kuopio, Finland.; Department of Ophthalmology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Kähönen M; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Department of Clinical Physiology, Tampere University Hospital, Tampere, Finland.
Kajanne R; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kallio L; Auria Biobank, University of Turku and Turku University Hospital, Turku, Finland.
Kälviäinen R; Epilepsy Center, Kuopio University Hospital, Kuopio, Finland.; Department of Neurology, University of Eastern Finland, Kuopio, Finland.
Kaprio J; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland.
Kerimov N; Institute of Computer Science, University of Tartu, Tartu, Estonia.
Kettunen J; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.; Biocenter Oulu, University of Oulu, Oulu, Finland.; Computational Medicine, Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Kilpeläinen E; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kilpi T; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Klinger K; Translational Sciences, Sanofi R&D, Framingham, MA, USA.
Kosma VM; Biobank of Eastern Finland, University of Eastern Finland, Kuopio, Finland.; Kuopio University Hospital, Kuopio, Finland.
Kuopio T; Central Finland Biobank, Central Finland Health Care District, Jyväskylä, Finland.
Kurra V; Department of Clinical Genetics, Tampere University Hospital, Tampere, Finland.; Department of Clinical Genetics, Faculty of Medicine and Health Technology, Tampere, Finland.
Laisk T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Laukkanen J; Central Finland Biobank, Central Finland Health Care District, Jyväskylä, Finland.; Department of Medicine, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Lawless N; Boehringer Ingelheim, Ingelheim am Rhein, Germany.
Liu A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Longerich S; Merck & Co, Kenilworth, NJ, USA.
Mägi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Mäkelä J; FINBB, Finnish Biobank Cooperative, Turku, Finland.
Mäkitie A; Department of Otorhinolaryngology-Head and Neck Surgery, University of Helsinki, Helsinki, Finland.; Helsinki University Hospital, Helsinki, Finland.
Malarstig A; Pfizer, Cambridge, MA, USA.; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Solna, Sweden.
Mannermaa A; Biobank of Eastern Finland, University of Eastern Finland, Kuopio, Finland.; Kuopio University Hospital, Kuopio, Finland.
Maranville J; Bristol Myers Squibb, New York, NY, USA.
Matakidou A; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Meretoja T; Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Mozaffari SV; Maze Therapeutics, South San Francisco, CA, USA.
Niemi MEK; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Niemi M; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; TAUCHI Research Center & Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Niiranen T; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.; Turku University Hospital and University of Turku, Turku, Finland.
O Donnell CJ; Novartis Institutes for BioMedical Research, Cambridge, MA, USA.
Obeidat ME; Novartis Institutes for BioMedical Research, Cambridge, MA, USA.
Okafo G; Boehringer Ingelheim, Ingelheim am Rhein, Germany.
Ollila HM; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Anesthesia, Critical Care, and Pain Medicine, Massachusetts General Hospital, Boston, MA, USA.
Palomäki A; Turku University Hospital and University of Turku, Turku, Finland.
Palotie T; Department of Oral and Maxillofacial Diseases, Helsinki University Hospital, Helsinki, Finland.; Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland.
Partanen J; Finnish Red Cross Blood Service, Helsinki, Finland.; Finnish Hematological Biobank, Helsinki, Finland.
Paul DS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Pelkonen M; Department of Pulmonary Diseases, Kuopio University Hospital, Kuopio, Finland.
Pendergrass RK; Genentech, San Francisco, CA, USA.
Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Pitkäranta A; Department of Otorhinolaryngology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Platt A; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Pulford D; GlaxoSmithKline, Stevenage, UK.
Punkka E; Helsinki Biobank, University of Helsinki and Hospital District of Helsinki and Uusimaa, Helsinki, Finland.
Pussinen P; Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland.
Raghavan N; Merck & Co, Kenilworth, NJ, USA.
Rahimov F; AbbVie, Chicago, IL, USA.
Rajpal D; Translational Sciences, Sanofi R&D, Framingham, MA, USA.
Renaud NA; Novartis Institutes for BioMedical Research, Cambridge, MA, USA.
Riley-Gillis B; AbbVie, Chicago, IL, USA.
Rodosthenous R; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Saarentaus E; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Salminen A; Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland.
Salminen E; Helsinki University Hospital, Helsinki, Finland.; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki, Helsinki, Finland.
Salomaa V; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Schleutker J; Auria Biobank, University of Turku and Turku University Hospital, Turku, Finland.
Serpi R; Northern Finland Biobank Borealis, University of Oulu, Northern Ostrobothnia Hospital District, Oulu, Finland.
Shen HY; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Siegel R; Novartis Institutes for BioMedical Research, Basel, Switzerland.
Silander K; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Siltanen S; Finnish Clinical Biobank Tampere, Tampere University and Tampere University Hospital, Tampere, Finland.
Soini S; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Soininen H; Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Sul JH; Merck & Co, Kenilworth, NJ, USA.
Tachmazidou I; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Tasanen K; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Dermatology and Medical Research Center Oulu, Oulu University Hospital, Oulu, Finland.
Tienari P; Department of Neurology, Helsinki University Hospital, Helsinki, Finland.; Translational Immunology, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Toppila-Salmi S; Department of Allergy, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Tukiainen T; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Tuomi T; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Abdominal Center, Endocrinology, Helsinki University Hospital, Helsinki, Finland.; Folkhalsan Research Center, Helsinki, Finland.; Research Program of Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.
Turunen JA; Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Eye Genetics Group, Folkhälsan Research Center, Helsinki, Finland.
Ulirsch JC; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Vaura F; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.; University of Turku, Turku, Finland.
Virolainen P; Auria Biobank, University of Turku and Turku University Hospital, Turku, Finland.
Waring J; AbbVie, Chicago, IL, USA.
Waterworth D; Janssen Research & Development, Spring House, PA, USA.
Yang R; Janssen Biotech, Beerse, Belgium.
Nelis M; Genomics Core Facility, Institute of Genomics, University of Tartu, Tartu, Estonia.
Reigo A; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Metspalu A; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Milani L; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Esko T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Fox C; Merck & Co, Kenilworth, NJ, USA.
Havulinna AS; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Perola M; Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
Ripatti S; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Jalanko A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Laitinen T; Finnish Clinical Biobank Tampere, Tampere University and Tampere University Hospital, Tampere, Finland.
Mäkelä TP; Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Plenge R; Bristol Myers Squibb, New York, NY, USA.
McCarthy M; Genentech, San Francisco, CA, USA.
Runz H; Biogen, Cambridge, MA, USA.
Daly MJ; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Palotie A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland. .; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. .; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. .; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. .
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Corporate Authors:
FinnGen
Źródło:
Nature [Nature] 2023 Jan; Vol. 613 (7944), pp. 508-518. Date of Electronic Publication: 2023 Jan 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease*/genetics
Gene Frequency*/genetics
Phenotype*
Humans ; Middle Aged ; Estonia ; Finland ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Meta-Analysis as Topic ; United Kingdom ; White People/genetics
Czasopismo naukowe
Tytuł:
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.
Autorzy:
Nicholas TJ; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, 84112, USA. .
Cormier MJ; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, 84112, USA.
Quinlan AR; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, 84112, USA.; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, 84112, USA.
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2022 Nov 16; Vol. 23 (1), pp. 490. Date of Electronic Publication: 2022 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Frequency*
High-Throughput Nucleotide Sequencing*
Software*
Humans ; Rare Diseases
Czasopismo naukowe
Tytuł:
Massively parallel sequencing data of 31 autosomal STR loci obtained using the Precision ID GlobalFiler NGS STR Panel v2 for 82 Japanese population samples.
Autorzy:
Kitayama T; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan. Electronic address: .
Kiesler KM; National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
Fukagawa T; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Watahiki H; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Mita Y; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Fujii K; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Sekiguchi K; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Vallone PM; National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
Mizuno N; National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
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Źródło:
Legal medicine (Tokyo, Japan) [Leg Med (Tokyo)] 2022 Sep; Vol. 58, pp. 102082. Date of Electronic Publication: 2022 Apr 29.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Fingerprinting*/methods
Gene Frequency*/genetics
Genetics, Population*/methods
Microsatellite Repeats*/genetics
High-Throughput Nucleotide Sequencing/methods ; Humans ; Japan
Czasopismo naukowe
Tytuł:
The first data of allele frequencies for 23 autosomal STRs in the Ede ethnic group in Vietnam.
Autorzy:
Dung Pham P; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam.
Luc Hoang T; Department of Forensic Science, People's Police Academy, Hanoi, Viet Nam.
Tra Le K; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam.
Thi Le P; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam.
Ngoc Nguyen N; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam.
Linh Tran H; National Key Laboratory of Gene Technology, Institute of Biotechnology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Hanoi 100000, Viet Nam.
Hung Nguyen M; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam.
Minh Tran D; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam.
Hoang H; Centre for DNA Identification, Institute of Biotechnology, Vietnam Academy of Science and Technology, Co Nhue, Hanoi 100000, Viet Nam; National Key Laboratory of Gene Technology, Institute of Biotechnology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Hanoi 100000, Viet Nam. Electronic address: .
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Źródło:
Legal medicine (Tokyo, Japan) [Leg Med (Tokyo)] 2022 Jul; Vol. 57, pp. 102072. Date of Electronic Publication: 2022 Apr 16.
Typ publikacji:
Journal Article
MeSH Terms:
Ethnicity*/genetics
Gene Frequency*
Genetics, Population*
Humans ; Microsatellite Repeats/genetics ; Phylogeny ; Vietnam
Czasopismo naukowe
Tytuł:
Very low allele frequency of small calf syndrome causing GALNT2-splice acceptor variant in the worldwide Holstein cattle population.
Autorzy:
Krull F; Institute of Veterinary Medicine, Georg-August-Universität Göttingen, Göttingen, Germany.
Brenig B; Institute of Veterinary Medicine, Georg-August-Universität Göttingen, Göttingen, Germany.
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Źródło:
Animal genetics [Anim Genet] 2022 Jun; Vol. 53 (3), pp. 472-473. Date of Electronic Publication: 2022 Feb 22.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Frequency*
Polymorphism, Single Nucleotide*
Cattle/*genetics
Cattle Diseases/*genetics
RNA Splice Sites/*genetics
Animals ; Cattle/abnormalities ; Cattle/classification ; Genotype
Czasopismo naukowe
Tytuł:
Pharmacogenetic allele variant frequencies: An analysis of the VA's Million Veteran Program (MVP) as a representation of the diversity in US population.
Autorzy:
Markianos, Kyriacos (AUTHOR)
Dong, Frederic (AUTHOR)
Gorman, Bryan (AUTHOR)
Shi, Yunling (AUTHOR)
Dochtermann, Daniel (AUTHOR)
Saxena, Uma (AUTHOR)
Devineni, Poornima (AUTHOR)
Moser, Jennifer (AUTHOR)
Muralidhar, Sumitra (AUTHOR)
Ramoni, Rachel (AUTHOR)
Tsao, Philip (AUTHOR)
Pyarajan, Saiju (AUTHOR)
Przygodzki, Ronald (AUTHOR)
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Źródło:
PLoS ONE. 2/24/2023, Vol. 17 Issue 2, p1-16. 16p.
Tytuł:
Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case-control study.
Autorzy:
Li R; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
Song J; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
Zhao A; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
Diao X; Department of Cardiovascular Medicine, Affiliated Hospital of Guizhou Medical University, Guiyang, China.
Zhang T; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
Qi X; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
Guan Z; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
An Y; The Clinical Laboratory Center, Guizhou Provincial People's Hospital, Guiyang, China.
Ren L; Antenatal Diagnosis Centre, Guizhou Provincial People's Hospital, Guiyang, China. .
Wang C; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China. .
He Y; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, & Collaborative Innovation Center for Prevention and Control of Endemic and Ethnic Regional Diseases Co-constructed by the Province and Ministry, Guizhou Medical University, Guiyang, 550004, Guizhou, China. .
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Źródło:
Human genomics [Hum Genomics] 2023 Mar 20; Vol. 17 (1), pp. 25. Date of Electronic Publication: 2023 Mar 20.
Typ publikacji:
Journal Article
MeSH Terms:
Amyloid beta-Protein Precursor*/genetics
Hypertension*/epidemiology
Hypertension*/genetics
Humans ; Female ; Case-Control Studies ; Essential Hypertension/genetics ; Genotype ; Polymorphism, Single Nucleotide/genetics ; China/epidemiology ; DNA Methylation/genetics ; Genetic Predisposition to Disease ; Gene Frequency
Czasopismo naukowe
Tytuł:
The Allele Catalog Tool: a web-based interactive tool for allele discovery and analysis.
Autorzy:
Chan YO; MU Institute for Data Science and Informatics, University of Missouri-Columbia, Columbia, MO, USA.; Christopher S. Bond Life Sciences Center, University of Missouri-Columbia, Columbia, MO, USA.
Dietz N; Division of Plant Science and Technology, University of Missouri-Columbia, Columbia, MO, USA.
Zeng S; Department of Electrical Engineering and Computer Science, University of Missouri-Columbia, Columbia, MO, USA.
Wang J; Christopher S. Bond Life Sciences Center, University of Missouri-Columbia, Columbia, MO, USA.; Department of Electrical Engineering and Computer Science, University of Missouri-Columbia, Columbia, MO, USA.
Flint-Garcia S; United States Department of Agriculture-Agricultural Research Service, Plant Genetics Research Unit, Columbia, MO, USA.
Salazar-Vidal MN; Division of Plant Science and Technology, University of Missouri-Columbia, Columbia, MO, USA.; Department of Evolution and Ecology, University of California-Davis, Davis, CA, USA.
Škrabišová M; Department of Biochemistry, Faculty of Science, Palacky University in Olomouc, Olomouc, Czech Republic.
Bilyeu K; United States Department of Agriculture-Agricultural Research Service, Plant Genetics Research Unit, Columbia, MO, USA. .
Joshi T; MU Institute for Data Science and Informatics, University of Missouri-Columbia, Columbia, MO, USA. .; Christopher S. Bond Life Sciences Center, University of Missouri-Columbia, Columbia, MO, USA. .; Department of Electrical Engineering and Computer Science, University of Missouri-Columbia, Columbia, MO, USA. .; Department of Health Management and Informatics, University of Missouri-Columbia, Columbia, MO, USA. .
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Źródło:
BMC genomics [BMC Genomics] 2023 Mar 10; Vol. 24 (1), pp. 107. Date of Electronic Publication: 2023 Mar 10.
Typ publikacji:
Journal Article
MeSH Terms:
Alleles*
Internet*
Software*
Datasets as Topic*
Soybeans*/genetics
Zea mays*/genetics
Arabidopsis*/genetics
Data Mining*/methods
Mutation ; Data Visualization ; Genes, Plant/genetics ; Pigmentation/genetics ; Plant Dormancy/genetics ; Gene Frequency ; Amino Acid Substitution ; Genotype ; Metadata
Czasopismo naukowe
Tytuł:
Genetic and phenotypic frequency distribution of ACE, ADRB1, AGTR1, CYP2C9*3, CYP2D6*10, CYP3A5*3, NPPA and factors associated with hypertension in Chinese Han hypertensive patients.
Autorzy:
Wang Z; Department of Urinary Surgery, The People's Hospital of Qingyang City, Qingyang, China.
Hou J; Department of Clinical Laboratory Medicine, The People's Hospital of Qingyang City, Qingyang, China.
Zheng H; Department of Clinical Laboratory Medicine, The People's Hospital of Qingyang City, Qingyang, China.
Wang D; Department of Neurosurgery, The People's Hospital of Qingyang City, Qingyang, China.
Tian W; Department of Clinical Laboratory Medicine, The Hospital of TCM of Gansu Province, Lanzhou, China.
Zhang D; Department of Cardiology, The People's Hospital of Qingyang City, Qingyang, China.
Yan J; Department of Clinical Laboratory Medicine, The People's Hospital of Qingyang City, Qingyang, China.
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Źródło:
Medicine [Medicine (Baltimore)] 2023 Mar 10; Vol. 102 (10), pp. e33206.
Typ publikacji:
Journal Article
MeSH Terms:
Cytochrome P-450 CYP2D6*/genetics
Hypertension*/genetics
Female ; Humans ; Male ; Atrial Natriuretic Factor ; Cytochrome P-450 CYP2C9/genetics ; Cytochrome P-450 CYP3A/genetics ; East Asian People/genetics ; Gene Frequency ; Genotype ; Receptor, Angiotensin, Type 1/genetics
Czasopismo naukowe
Tytuł:
Genetic features and phylogenetic relationship analyses of Guizhou Han population residing in Southwest China via 38 X-InDels.
Autorzy:
Feng Y; Shanghai Key Lab of Forensic Medicine, Key Lab of Forensic Science, Ministry of Justice, China, Academy of Forensic Science, Shanghai, China.; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Wang T; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Yang Y; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
You J; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
He K; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Zhang H; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Wang Q; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Yang M; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Huang J; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Ren Z; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
Jin X; Shanghai Key Lab of Forensic Medicine, Key Lab of Forensic Science, Ministry of Justice, China, Academy of Forensic Science, Shanghai, China.; Department of Forensic Medicine, Guizhou Medical University, Guiyang, China.
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Źródło:
PeerJ [PeerJ] 2023 Mar 08; Vol. 11, pp. e14964. Date of Electronic Publication: 2023 Mar 08 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Polymorphism, Genetic*/genetics
Genetics, Population*
Male ; Female ; Humans ; Gene Frequency ; Phylogeny ; China
Czasopismo naukowe
Tytuł:
CCR5∆32 and SDF1 3'A: Gene Variants, Expression and Influence on Biological Markers for the Clinical Progression to AIDS among HIV-1 Virus Controllers in a Mixed Population of the Amazon Region of Brazil.
Autorzy:
Lima ÉRG; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Queiroz MAF; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Lima SS; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Machado LFA; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Cayres-Vallinoto IMV; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Vallinoto ACR; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Figueiredo FAPL; Human and Medical Genetics Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Guerreiro JF; Human and Medical Genetics Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Guimarães Ishak MO; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
Ishak R; Virus Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 04; Vol. 24 (5). Date of Electronic Publication: 2023 Mar 04.
Typ publikacji:
Journal Article
MeSH Terms:
Acquired Immunodeficiency Syndrome*/genetics
Chemokine CXCL12*/genetics
HIV Infections*
Receptors, CCR5*/genetics
Female ; Humans ; Male ; Biomarkers ; Brazil ; Disease Progression ; Gene Frequency ; HIV-1 ; Viremia
Czasopismo naukowe
Tytuł:
Whole-genome sequencing of cryopreserved resources from French Large White pigs at two distinct sampling times reveals strong signatures of convergent and divergent selection between the dam and sire lines.
Autorzy:
Boitard S; CBGP, CIRAD, INRAE, Institut Agro, IRD, Université de Montpellier, Montferrier-sur-Lez, France. .; GenPhySE, INRAE, INP, Université de Toulouse, Castanet-Tolosan, France. .
Liaubet L; GenPhySE, INRAE, INP, Université de Toulouse, Castanet-Tolosan, France.
Paris C; GenPhySE, INRAE, INP, Université de Toulouse, Castanet-Tolosan, France.
Fève K; GenPhySE, INRAE, INP, Université de Toulouse, Castanet-Tolosan, France.
Dehais P; GenPhySE, INRAE, INP, Université de Toulouse, Castanet-Tolosan, France.
Bouquet A; IFIP Institut du porc/Alliance R & D, Le Rheu, France.
Riquet J; GenPhySE, INRAE, INP, Université de Toulouse, Castanet-Tolosan, France.
Mercat MJ; IFIP Institut du porc/Alliance R & D, Le Rheu, France.
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Źródło:
Genetics, selection, evolution : GSE [Genet Sel Evol] 2023 Mar 02; Vol. 55 (1), pp. 13. Date of Electronic Publication: 2023 Mar 02.
Typ publikacji:
Journal Article
MeSH Terms:
Genomics*
Livestock*
Animals ; Swine/genetics ; Whole Genome Sequencing ; Body Size ; Body Weight ; Gene Frequency
Czasopismo naukowe
Tytuł:
Relationship between APOE , PER2 , PER3 and OX2R Genetic Variants and Neuropsychiatric Symptoms in Patients with Alzheimer's Disease.
Autorzy:
Lozano-Tovar S; Facultad de Psicología, Universidad Nacional Autónoma de México (UNAM), Circuito Ciudad Universitaria Avenida, C.U., Mexico City 04510, Mexico.
Rodríguez-Agudelo Y; Laboratorio de Neuropsicología Clínica, Instituto Nacional de Neurología y Neurocirugía, 'Manuel Velasco Suárez', Mexico City 14269, Mexico.
Dávila-Ortiz de Montellano DJ; Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, 'Manuel Velasco Suárez', Mexico City 14269, Mexico.
Pérez-Aldana BE; Doctorado en Ciencias Biológicas y de la Salud, Universidad Autónoma Metropolitana, Mexico City 04960, Mexico.
Ortega-Vázquez A; Departamento de Sistemas Biológicos, Universidad Autónoma Metropolitana, Unidad Xochimilco, Mexico City 04960, Mexico.
Monroy-Jaramillo N; Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, 'Manuel Velasco Suárez', Mexico City 14269, Mexico.
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Źródło:
International journal of environmental research and public health [Int J Environ Res Public Health] 2023 Mar 01; Vol. 20 (5). Date of Electronic Publication: 2023 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Alzheimer Disease*/diagnosis
Humans ; Alleles ; Apolipoprotein E4/genetics ; Apolipoproteins E/genetics ; Gene Frequency ; Genotype ; Period Circadian Proteins/genetics
Czasopismo naukowe
Tytuł:
Association Between rs2200733 Polymorphism of PITX2 Gene and the Risk of Atrial Fibrillation.
Autorzy:
Shen Han Y; Medical College of Yangzhou University, Yangzhou, China.
Ahmed AM; Medical College of Yangzhou University, Yangzhou, China; Department of Cardiology, Affiliated Hospital of Yangzhou University, Yangzhou, China.
Chao Z; Department of Cardiology, Affiliated Hospital of Yangzhou University, Yangzhou, China.
Jun W; Department of Cardiology, Affiliated Hospital of Yangzhou University, Yangzhou, China.
Xiaochen Y; Medical College of Yangzhou University, Yangzhou, China; Department of Cardiology, Affiliated Hospital of Yangzhou University, Yangzhou, China.
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Źródło:
Anatolian journal of cardiology [Anatol J Cardiol] 2023 Mar; Vol. 27 (3), pp. 160-166.
Typ publikacji:
Journal Article
MeSH Terms:
Atrial Fibrillation*/genetics
Homeodomain Proteins*/genetics
Transcription Factors*/genetics
Humans ; Case-Control Studies ; Gene Frequency ; Genotype ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
A common resequencing-based genetic marker data set for global maize diversity.
Autorzy:
Grzybowski MW; Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Plant Molecular Ecophysiology, Institute of Plant Experimental Biology and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland.
Mural RV; Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
Xu G; Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
Turkus J; Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
Yang J; Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
Schnable JC; Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.; Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
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Źródło:
The Plant journal : for cell and molecular biology [Plant J] 2023 Mar; Vol. 113 (6), pp. 1109-1121. Date of Electronic Publication: 2023 Feb 10.
Typ publikacji:
Journal Article
MeSH Terms:
Zea mays*/genetics
Plant Breeding*
Humans ; Genetic Markers/genetics ; Gene Frequency/genetics ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Tytuł:
The relevance of HLA class II genes in JAK2 V617F-positive myeloproliferative neoplasms.
Autorzy:
Shivarov V; Department of Experimental Research, Medical University Pleven, Pleven, Bulgaria. Electronic address: .
Tsvetkova G; Department of Clinical Hematology, University Hospital Alexandrovska, Medical University, Sofia, Bulgaria.
Hadjiev E; Department of Clinical Hematology, University Hospital Alexandrovska, Medical University, Sofia, Bulgaria.
Ivanova M; Department of Clinical Immunology, University Hospital Alexandrovska, Medical University, Sofia, Bulgaria. Electronic address: .
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Źródło:
Human immunology [Hum Immunol] 2023 Mar; Vol. 84 (3), pp. 199-207. Date of Electronic Publication: 2023 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, MHC Class II*
Neoplasms*/genetics
Humans ; Gene Frequency ; Genotype ; Haplotypes ; Alleles ; HLA-DRB1 Chains/genetics ; HLA-DQ beta-Chains/genetics ; Janus Kinase 2/genetics
Czasopismo naukowe
Tytuł:
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Autorzy:
Martinez-Barrios E; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.
Sarquella-Brugada G; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.; Medical Science Department, School of Medicine, University of Girona, 17003, Girona, Spain.
Perez-Serra A; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Fernandez-Falgueras A; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Cesar S; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.
Alcalde M; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Coll M; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Puigmulé M; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Iglesias A; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Ferrer-Costa C; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Del Olmo B; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Picó F; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Lopez L; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.
Fiol V; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.
Cruzalegui J; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.
Hernandez C; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.
Arbelo E; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036, Barcelona, Spain.
Díez-Escuté N; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036, Barcelona, Spain.
Cerralbo P; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.
Grassi S; Department of Health Sciences, Section of Forensic Medical Sciences, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.; Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.
Oliva A; Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.
Toro R; Medicine Department, School of Medicine, 11003, Cadiz, Spain.
Brugada J; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950, Barcelona, Spain.; Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), European Reference Network for Rare, 1105 AZ, Amsterdam, The Netherlands.; Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Esplugues de Llobregat, 08950, Barcelona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain.; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036, Barcelona, Spain.
Brugada R; Medical Science Department, School of Medicine, University of Girona, 17003, Girona, Spain. .; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain. .; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain. .; Cardiology Service, Hospital Josep Trueta, University of Girona, 17007, Girona, Spain. .
Campuzano O; Medical Science Department, School of Medicine, University of Girona, 17003, Girona, Spain. .; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190, Girona, Spain. .; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029, Madrid, Spain. .
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Źródło:
International journal of legal medicine [Int J Legal Med] 2023 Mar; Vol. 137 (2), pp. 345-351. Date of Electronic Publication: 2023 Jan 25.
Typ publikacji:
Journal Article
MeSH Terms:
Death, Sudden*/etiology
Arrhythmias, Cardiac*
Humans ; Mutation ; Gene Frequency ; Autopsy ; Death, Sudden, Cardiac/etiology
Czasopismo naukowe

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