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Tytuł :
Mapping the proteo-genomic convergence of human diseases.
Autorzy :
Pietzner M; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.; Computational Medicine, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
Wheeler E; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Carrasco-Zanini J; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Cortes A; GlaxoSmithKline, Stevenage SG1 2NY, UK.
Koprulu M; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Wörheide MA; Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Oerton E; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Cook J; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Stewart ID; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Kerrison ND; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Luan J; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
Raffler J; Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institut für Digitale Medizin, Universitätsklinikum Augsburg, 86156 Augsburg, Germany.
Arnold M; Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Department of Psychiatry and Behavioral Sciences, Duke University, Durham, NC 27710, USA.
Arlt W; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK.
O'Rahilly S; MRC Metabolic Diseases Unit, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
Kastenmüller G; Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; German Centre for Diabetes Research (DZD), 85764 Neuherberg, Germany.
Gamazon ER; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37203, USA.; Clare Hall, University of Cambridge, Cambridge CB3 9AL, UK.
Hingorani AD; UCL British Heart Foundation Research Accelerator, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK.; Health Data Research UK, Gibbs Building, London NW1 2BE, UK.; Institute of Health Informatics, University College London, London NW1 2DA, UK.
Scott RA; GlaxoSmithKline, Stevenage SG1 2NY, UK.
Wareham NJ; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.; Health Data Research UK, Gibbs Building, London NW1 2BE, UK.
Langenberg C; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.; Computational Medicine, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Health Data Research UK, Gibbs Building, London NW1 2BE, UK.
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Źródło :
Science (New York, N.Y.) [Science] 2021 Nov 12; Vol. 374 (6569), pp. eabj1541. Date of Electronic Publication: 2021 Nov 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Genomics*
Proteome*
Blood Proteins/*genetics
Disease/*genetics
Proteins/*genetics
Aging ; Alternative Splicing ; Blood Proteins/metabolism ; COVID-19/genetics ; Connective Tissue Diseases/genetics ; Disease/etiology ; Drug Development ; Female ; Gallstones/genetics ; Genetic Association Studies ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Internet ; Male ; Phenotype ; Proteins/metabolism ; Quantitative Trait Loci ; Sex Characteristics
Czasopismo naukowe
Tytuł :
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Autorzy :
Patel MJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
DiStefano MT; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Precision Health Program, Geisinger, Danville, PA, USA.
Oza AM; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.
Hughes MY; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wilcox EH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hemphill SE; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
Cushman BJ; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
Grant AR; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Siegert RK; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Shen J; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Chapin A; ARUP Laboratories, Salt Lake City, UT, USA.
Boczek NJ; Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN, USA.
Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Nara K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Avraham KB; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Griffith AJ; Department of Otolaryngology Head-Neck Surgery, College of Medicine, The University of Tennessee Health Science Center, Memphis, TN, USA.
Rehm HL; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
Amr SS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Tayoun ANA; Al Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. .; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. .
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Corporate Authors :
ClinGen Hearing Loss Clinical Domain Working Group
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2208-2212. Date of Electronic Publication: 2021 Jul 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genome, Human*
Hearing Loss*/diagnosis
Hearing Loss*/genetics
Adenosine Monophosphate ; Genetic Testing ; Genetic Variation/genetics ; Humans
Czasopismo naukowe
Tytuł :
The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas.
Autorzy :
García-Ortiz H; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico. .
Barajas-Olmos F; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Contreras-Cubas C; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Cid-Soto MÁ; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Córdova EJ; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Centeno-Cruz F; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Mendoza-Caamal E; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Cicerón-Arellano I; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Flores-Huacuja M; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Baca P; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Bolnick DA; Department of Anthropology and Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
Snow M; Department of Anthropology, University of Montana, Missoula, MT, USA.
Flores-Martínez SE; División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Mexico.
Ortiz-Lopez R; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud. Universidad Autonoma de Nuevo Leon, Centro de Investigacion y Desarrollo en Ciencias de la Salud, Monterrey, Mexico.
Reynolds AW; Department of Anthropology, Baylor University, Waco, TX, USA.
Blanchet A; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Morales-Marín M; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Velázquez-Cruz R; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Kostic AD; Harvard Medical School, Joslin Diabetes Center, Boston, MA, USA.
Galaviz-Hernández C; Instituto Politécnico Nacional, CIIDIR-Durango, Durango, Mexico.
García-Zapién AG; Departamento de Farmacobiología, Centro Universitario de Ciencias Exactas e Ingenierías, Universidad de Guadalajara, Guadalajara, Mexico.
Jiménez-López JC; Dirección de Antropología Física, Instituto Nacional de Antropología e Historia, Museo Nacional de Antropología, Mexico City, Mexico.
León-Reyes G; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Salas-Bautista EG; Dirección de Antropología Física, Instituto Nacional de Antropología e Historia, Museo Nacional de Antropología, Mexico City, Mexico.
Lazalde-Ramos BP; Unidad Académica de Ciencias Químicas, Universidad Autónoma de Zacatecas, Zacatecas, Mexico.
Jiménez-Ruíz JL; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Salas-Martínez G; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Ramos-Madrigal J; Section for Evolutionary Genomics, The GLOBE Institute, The University of Copenhagen, Øster Farimagsgade 5A, 1352, Copenhagen, Denmark.
Mirzaeicheshmeh E; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Saldaña-Alvarez Y; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Del Carmen Abrahantes-Pérez M; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Loeza-Becerra F; Universidad Michoacana de San Nicolás de Hidalgo, Michoacán, Mexico.
Mojica-Espinosa R; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Sánchez-Quinto F; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Rangel-Villalobos H; Instituto de Investigación en Genética Molecular, Universidad de Guadalajara Ocotlán, Jalisco, Mexico.
Sosa-Macías M; Instituto Politécnico Nacional, CIIDIR-Durango, Durango, Mexico.
Sánchez-Corona J; División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Mexico.
Rojas-Martinez A; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud. Universidad Autonoma de Nuevo Leon, Centro de Investigacion y Desarrollo en Ciencias de la Salud, Monterrey, Mexico.
Martínez-Hernández A; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico.
Orozco L; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico. .
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Źródło :
Nature communications [Nat Commun] 2021 Oct 12; Vol. 12 (1), pp. 5942. Date of Electronic Publication: 2021 Oct 12.
Typ publikacji :
Historical Article; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Phylogeny*
Ethnic Groups/*genetics
Human Migration/*history
Indians, North American/*genetics
Population Dynamics/*statistics & numerical data
Ethnic Groups/classification ; Genetic Variation ; Genomics/methods ; History, Ancient ; Humans ; Indians, North American/classification ; Mexico ; Phylogeography
Czasopismo naukowe
Tytuł :
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.
Autorzy :
Razali RM; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Rodriguez-Flores J; Department of Genetic Medicine, Weill Cornell Medicine, New York, NY, USA.
Ghorbani M; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Naeem H; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Aamer W; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Aliyev E; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Jubran A; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Clark AG; Department of Molecular Biology and Genetics, Cornell University, New York, NY, USA.
Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar. .; Weill Cornell Medicine-Qatar, Doha, Qatar. .; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. .
Mokrab Y; Department of Human Genetics, Sidra Medicine, Doha, Qatar. .; Weill Cornell Medicine-Qatar, Doha, Qatar. .; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. .
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Corporate Authors :
Qatar Genome Program Research Consortium
Źródło :
Nature communications [Nat Commun] 2021 Oct 12; Vol. 12 (1), pp. 5929. Date of Electronic Publication: 2021 Oct 12.
Typ publikacji :
Historical Article; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Y*
Genome, Human*
Haplotypes*
Phylogeny*
Human Migration/*history
Africa ; Alleles ; Arabs/genetics ; Asia ; DNA, Mitochondrial/genetics ; Datasets as Topic ; Europe ; Female ; Gene Flow ; Gene Frequency ; History, 21st Century ; History, Ancient ; History, Medieval ; Humans ; Male ; Phylogeography ; Qatar ; Sequence Analysis, DNA ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Impact of human gene annotations on RNA-seq differential expression analysis.
Autorzy :
Hamaguchi Y; Faculty of Science and Engineering, Waseda University, 55N-06-10, 3-4-1 Okubo Shinjuku-ku, Tokyo, 169-8555, Japan. .
Zeng C; Faculty of Science and Engineering, Waseda University, 55N-06-10, 3-4-1 Okubo Shinjuku-ku, Tokyo, 169-8555, Japan.; AIST-Waseda University Computational Bio Big-Data Open Innovation Laboratory (CBBD-OIL), 3-4-1, Okubo Shinjuku-ku, Tokyo, 169-8555, Japan.
Hamada M; Faculty of Science and Engineering, Waseda University, 55N-06-10, 3-4-1 Okubo Shinjuku-ku, Tokyo, 169-8555, Japan. .; AIST-Waseda University Computational Bio Big-Data Open Innovation Laboratory (CBBD-OIL), 3-4-1, Okubo Shinjuku-ku, Tokyo, 169-8555, Japan. .; Institute for Medical-oriented Structural Biology, Waseda University, 2-2, Wakamatsu-cho Shinjuku-ku, Tokyo, 162-8480, Japan. .; Graduate School of Medicine, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo, 113-8602, Japan. .
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Źródło :
BMC genomics [BMC Genomics] 2021 Oct 08; Vol. 22 (1), pp. 730. Date of Electronic Publication: 2021 Oct 08.
Typ publikacji :
Journal Article
MeSH Terms :
Genome, Human*
High-Throughput Nucleotide Sequencing*
Humans ; Molecular Sequence Annotation ; RNA-Seq ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Fast two-stage phasing of large-scale sequence data.
Autorzy :
Browning BL; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA. Electronic address: .
Tian X; Statistical Innovation, Oncology Biometrics, AstraZeneca, Gaithersburg, MD 20878, USA.
Zhou Y; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Browning SR; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1880-1890. Date of Electronic Publication: 2021 Sep 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Data Interpretation, Statistical*
Genome, Human*
Haplotypes*
Polymorphism, Single Nucleotide*
Software*
Asthma/*genetics
Atrial Fibrillation/*genetics
Algorithms ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Male
Czasopismo naukowe
Tytuł :
The risks of using unapproved gene symbols.
Autorzy :
Braschi B; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Seal RL; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK; Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge CB2 0PT, UK.
Tweedie S; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Jones TEM; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Bruford EA; HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK; Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge CB2 0PT, UK. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1813-1816.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Terminology as Topic*
Databases, Genetic/*standards
Genes/*genetics
Research Personnel/*standards
Genomics ; Humans
Czasopismo naukowe
Tytuł :
Exon and intron sharing in opposite direction-an undocumented phenomenon in human genome-between Pou5f1 and Tcf19 genes.
Autorzy :
Mehravar M; Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Biomedicine Discovery Institute, Monash University, Melbourne, Australia.
Ghaemimanesh F; Monoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
Poursani EM; Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran. .
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Źródło :
BMC genomics [BMC Genomics] 2021 Oct 05; Vol. 22 (1), pp. 718. Date of Electronic Publication: 2021 Oct 05.
Typ publikacji :
Journal Article
MeSH Terms :
Alternative Splicing*
Genome, Human*
Octamer Transcription Factor-3/*genetics
Transcription Factors/*genetics
Exons/genetics ; Genomics ; Humans ; Introns/genetics
Czasopismo naukowe
Tytuł :
HIV-1 and human genetic variation.
Autorzy :
McLaren PJ; National HIV and Retrovirology Laboratory at the JC Wilt Infectious Diseases Research Centre, National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg, MB, Canada.; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, MB, Canada.
Fellay J; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland. .; Swiss Institute of Bioinformatics, Lausanne, Switzerland. .; Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. .
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Źródło :
Nature reviews. Genetics [Nat Rev Genet] 2021 Oct; Vol. 22 (10), pp. 645-657. Date of Electronic Publication: 2021 Jun 24.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Variation*
Genome, Human*
Host-Pathogen Interactions*
HIV Infections/*pathology
HIV-1/*pathogenicity
HIV Infections/genetics ; HIV Infections/virology ; Humans
Czasopismo naukowe
Tytuł :
The origin of human mutation in light of genomic data.
Autorzy :
Seplyarskiy VB; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Sunyaev S; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. .; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. .
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Źródło :
Nature reviews. Genetics [Nat Rev Genet] 2021 Oct; Vol. 22 (10), pp. 672-686. Date of Electronic Publication: 2021 Jun 23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Genome, Human*
Mutagenesis*
Mutation*
Mutation Rate*
Genomics/*methods
Germ Cells/*metabolism
Humans
Czasopismo naukowe
Tytuł :
Complex small-world regulatory networks emerge from the 3D organisation of the human genome.
Autorzy :
Brackley CA; SUPA, School of Physics and Astronomy, University of Edinburgh, Peter Guthrie Tait Road, Edinburgh, EH9 3FD, UK.
Gilbert N; MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK.
Michieletto D; SUPA, School of Physics and Astronomy, University of Edinburgh, Peter Guthrie Tait Road, Edinburgh, EH9 3FD, UK.; MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK.
Papantonis A; Institute of Pathology, University Medical Center, Georg-August University of Göttingen, 37075, Göttingen, Germany.
Pereira MCF; SUPA, School of Physics and Astronomy, University of Edinburgh, Peter Guthrie Tait Road, Edinburgh, EH9 3FD, UK.
Cook PR; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK.
Marenduzzo D; SUPA, School of Physics and Astronomy, University of Edinburgh, Peter Guthrie Tait Road, Edinburgh, EH9 3FD, UK. .
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Źródło :
Nature communications [Nat Commun] 2021 Oct 01; Vol. 12 (1), pp. 5756. Date of Electronic Publication: 2021 Oct 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Regulatory Networks*
Genome, Human*
Models, Genetic*
Transcription Factors/*metabolism
Chromatin/chemistry ; Chromatin/metabolism ; Chromosomes, Human/chemistry ; Chromosomes, Human/metabolism ; Genome-Wide Association Study ; Humans ; Polymers/chemistry ; Polymers/metabolism ; Quantitative Trait Loci ; Transcription, Genetic
Czasopismo naukowe
Tytuł :
Drug hunters uncloak the non-coding 'hidden' genome.
Autorzy :
Eisenstein M; Philadelphia, PA, USA.
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Źródło :
Nature biotechnology [Nat Biotechnol] 2021 Oct; Vol. 39 (10), pp. 1169-1171.
Typ publikacji :
Wiadomości
MeSH Terms :
Drug Discovery*
Genome, Human*
RNA, Untranslated/*genetics
Regulatory Sequences, Nucleic Acid/*genetics
Chromatin/chemistry ; Chromatin/genetics ; Gene Expression Regulation/drug effects ; Humans ; Mutation ; RNA, Untranslated/drug effects ; Regulatory Sequences, Nucleic Acid/drug effects
Periodyk
Tytuł :
Through 40,000 years of human presence in Southern Europe: the Italian case study.
Autorzy :
Aneli S; Department of Biology, University of Padova, Via Ugo Bassi, 58/B, 35131, Padova, Italy. .
Caldon M; Department of Biology, University of Padova, Via Ugo Bassi, 58/B, 35131, Padova, Italy.
Saupe T; Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
Montinaro F; Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, 51010, Tartu, Estonia.; Department of Biology-Genetics, University of Bari, Via Edoardo Orabona 4, 70125, Bari, Italy.
Pagani L; Department of Biology, University of Padova, Via Ugo Bassi, 58/B, 35131, Padova, Italy.; Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
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Źródło :
Human genetics [Hum Genet] 2021 Oct; Vol. 140 (10), pp. 1417-1431. Date of Electronic Publication: 2021 Aug 19.
Typ publikacji :
Historical Article; Journal Article; Review
MeSH Terms :
Evolution, Molecular*
Genetic Variation*
Genome, Human*
DNA, Ancient/*analysis
European Continental Ancestry Group/*genetics
European Continental Ancestry Group/*history
Genomics/*history
History, Ancient ; History, Medieval ; Humans ; Italy
Czasopismo naukowe
Tytuł :
The clinical utility of exome and genome sequencing across clinical indications: a systematic review.
Autorzy :
Shickh S; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, Unity Health Toronto, Toronto, ON, Canada.
Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, Unity Health Toronto, Toronto, ON, Canada.
Uleryk E; E.M Uleryk Consulting, Mississauga, ON, Canada.
Pechlivanoglou P; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; The Hospital for Sick Children, Toronto, ON, Canada.
Bombard Y; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. .; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, Unity Health Toronto, Toronto, ON, Canada. .; Li Ka Shing Knowledge Institute of St. Michael's Hospital, University of Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada. .
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Źródło :
Human genetics [Hum Genet] 2021 Oct; Vol. 140 (10), pp. 1403-1416. Date of Electronic Publication: 2021 Aug 08.
Typ publikacji :
Comparative Study; Journal Article; Systematic Review
MeSH Terms :
Genome, Human*
Whole Exome Sequencing*
Abnormalities, Multiple/*genetics
Nervous System Diseases/*genetics
Genetic Variation ; Humans ; Sequence Analysis, Protein
Czasopismo naukowe
Tytuł :
Genome Maintenance Mechanisms at the Chromatin Level.
Autorzy :
Takatsuka H; School of Biological Science and Technology, College of Science and Engineering, Kanazawa University, Kakuma-Machi, Kanazawa 920-1192, Japan.
Shibata A; Signal Transduction Program, Gunma University Initiative for Advanced Research (GIAR), 3-39-22, Showa-Machi, Maebashi 371-8511, Japan.
Umeda M; Graduate School of Science and Technology, Nara Institute of Science and Technology, Ikoma 630-0192, Japan.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 27; Vol. 22 (19). Date of Electronic Publication: 2021 Sep 27.
Typ publikacji :
Journal Article; Review
MeSH Terms :
DNA Damage*
DNA Repair*
Genome, Human*
Genomic Instability*
Chromatin/*metabolism
Animals ; Chromatin/genetics ; Humans
Czasopismo naukowe
Tytuł :
Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem.
Autorzy :
Geryk J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 15006, Prague, Czech Republic. .; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic. .
Zinkova A; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic.
Zedníková I; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic.
Simková H; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic.
Stenzl V; Department of Forensic Genetics, Institute of Criminalistics, Strojnická 27, 170 89, Prague, Czech Republic.
Korabecna M; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic.
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Źródło :
BMC bioinformatics [BMC Bioinformatics] 2021 Sep 27; Vol. 22 (1), pp. 464. Date of Electronic Publication: 2021 Sep 27.
Typ publikacji :
Journal Article
MeSH Terms :
Genome, Human*
Genomic Structural Variation*
Cluster Analysis ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Uncertainty
Czasopismo naukowe
Tytuł :
Ancestry inference using reference labeled clusters of haplotypes.
Autorzy :
Wang Y; AncestryDNA, San Francisco, CA, 94107, USA.
Song S; AncestryDNA, San Francisco, CA, 94107, USA.
Schraiber JG; AncestryDNA, San Francisco, CA, 94107, USA.
Sedghifar A; AncestryDNA, San Francisco, CA, 94107, USA.
Byrnes JK; AncestryDNA, San Francisco, CA, 94107, USA.
Turissini DA; AncestryDNA, San Francisco, CA, 94107, USA.
Hong EL; AncestryDNA, San Francisco, CA, 94107, USA.
Ball CA; AncestryDNA, San Francisco, CA, 94107, USA.
Noto K; AncestryDNA, San Francisco, CA, 94107, USA. .
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Źródło :
BMC bioinformatics [BMC Bioinformatics] 2021 Sep 25; Vol. 22 (1), pp. 459. Date of Electronic Publication: 2021 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genetics, Population*
Genome, Human*
Haplotypes ; Humans ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Insights into human history from the first decade of ancient human genomics.
Autorzy :
Liu Y; Key Laboratory of Vertebrate Evolution and Human Origins, Institute of Vertebrate Paleontology and Paleoanthropology, Center for Excellence in Life and Paleoenvironment, Chinese Academy of Sciences, Beijing, 100044, China.
Mao X; Key Laboratory of Vertebrate Evolution and Human Origins, Institute of Vertebrate Paleontology and Paleoanthropology, Center for Excellence in Life and Paleoenvironment, Chinese Academy of Sciences, Beijing, 100044, China.
Krause J; Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103 Leipzig, Germany.
Fu Q; Key Laboratory of Vertebrate Evolution and Human Origins, Institute of Vertebrate Paleontology and Paleoanthropology, Center for Excellence in Life and Paleoenvironment, Chinese Academy of Sciences, Beijing, 100044, China.; University of the Chinese Academy of Sciences, Beijing, 100049, China.
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Źródło :
Science (New York, N.Y.) [Science] 2021 Sep 24; Vol. 373 (6562), pp. 1479-1484. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji :
Historical Article; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
DNA, Ancient*
Genome, Human*
Genomics*
Population Dynamics*
Africa ; Americas ; Animals ; Asia ; Biological Evolution ; Europe ; History, Ancient ; Human Migration ; Humans ; Neanderthals/genetics ; Oceania ; Siberia
Czasopismo naukowe
Tytuł :
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
Autorzy :
Mukamel RE; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.
Handsaker RE; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Boston, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Sherman MA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.; Computer Science and Artificial Intelligence Laboratory, MIT, Boston, MA, USA.
Barton AR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.; Bioinformatics and Integrative Genomics Program, Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Zheng Y; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Boston, MA, USA.
McCarroll SA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Boston, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Loh PR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University, Boston, MA, USA.
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Źródło :
Science (New York, N.Y.) [Science] 2021 Sep 24; Vol. 373 (6562), pp. 1499-1505. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Phenotype*
Polymorphism, Genetic*
Minisatellite Repeats/*genetics
African Continental Ancestry Group ; Aggrecans/genetics ; Antigens/genetics ; Body Height/genetics ; European Continental Ancestry Group/genetics ; Genetic Association Studies ; Hair ; Haplotypes ; Humans ; Intermediate Filament Proteins/genetics ; Kidney/physiology ; Lipoprotein(a)/blood ; Lipoprotein(a)/genetics ; Mucin-1/genetics ; Polymorphism, Single Nucleotide ; Polynucleotide Adenylyltransferase/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
The legacy of the Human Genome Project.
Autorzy :
Rood JE; Genentech, 1 DNA Way, South San Francisco, CA, USA.
Regev A; Genentech, 1 DNA Way, South San Francisco, CA, USA.
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Źródło :
Science (New York, N.Y.) [Science] 2021 Sep 24; Vol. 373 (6562), pp. 1442-1443. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Genomics*
Human Genetics*
Human Genome Project*
Computational Biology ; Databases, Genetic ; Genome-Wide Association Study ; Health ; Humans ; Information Dissemination ; Neoplasms/genetics ; Population Groups/genetics ; Rare Diseases/genetics
Czasopismo naukowe

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