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Tytuł :
DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.
Autorzy :
Davieson CD; National Heart and Lung Institute, Imperial College London, London, UK.
Joyce KE; National Heart and Lung Institute, Imperial College London, London, UK.
Sharma L; National Heart and Lung Institute, Imperial College London, London, UK.
Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK; Imperial College Healthcare NHS Trust, London, UK. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104312. Date of Electronic Publication: 2021 Aug 16.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Phenotype*
Practice Guidelines as Topic*
Genetic Testing/*standards
Consensus Development Conferences as Topic ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Genetic Testing/methods ; Humans ; Mutation ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Telangiectasia, Hereditary Hemorrhagic/genetics ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/genetics
Czasopismo naukowe
Tytuł :
Assessment of the effectiveness of the EUROFORGEN NAME and Precision ID Ancestry panel markers for ancestry investigations.
Autorzy :
Truelsen D; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark. .
Tvedebrink T; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.; Department of Mathematical Sciences, Aalborg University, 9220, Aalborg, Denmark.
Mogensen HS; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Farzad MS; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Shan MA; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Morling N; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.; Department of Mathematical Sciences, Aalborg University, 9220, Aalborg, Denmark.
Pereira V; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Børsting C; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
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Źródło :
Scientific reports [Sci Rep] 2021 Sep 20; Vol. 11 (1), pp. 18595. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Genetics, Population*
Ethnic Groups/*genetics
DNA Fingerprinting ; Humans
Czasopismo naukowe
Tytuł :
Population genetic data for 21 autosomal STR loci in the Azerbaijani population using the Globalfiler™ kit.
Autorzy :
Aliyeva A; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, NY, 12222, Albany, USA.
Gellatly V; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, NY, 12222, Albany, USA.
Abbasov M; Genetic Resources Institute, Azerbaijan National Academy of Sciences, Baku, AZ1106, Azerbaijan.
Iyengar A; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, NY, 12222, Albany, USA. .
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Źródło :
International journal of legal medicine [Int J Legal Med] 2021 Sep; Vol. 135 (5), pp. 1789-1791. Date of Electronic Publication: 2021 Apr 27.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Fingerprinting*
Gene Frequency*
Genetic Loci*
Microsatellite Repeats*
Azerbaijan ; Genetics, Population ; Humans
Czasopismo naukowe
Tytuł :
Analysis of the antimicrobial resistance gene frequency in whole-genome sequenced Vibrio from Latin American countries.
Autorzy :
Vilela FP; Faculdade de Ciências Farmacêuticas de Ribeirão Preto - USP, Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Av. do Café, s/n, 14040-903, Ribeirão Preto, SP, Brazil.
Falcão JP; Faculdade de Ciências Farmacêuticas de Ribeirão Preto - USP, Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Av. do Café, s/n, 14040-903, Ribeirão Preto, SP, Brazil.
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Źródło :
Journal of medical microbiology [J Med Microbiol] 2021 Sep; Vol. 70 (9).
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Whole Genome Sequencing*
Drug Resistance, Bacterial/*genetics
Vibrio/*genetics
Animals ; Drug Resistance, Multiple, Bacterial/genetics ; Environmental Microbiology ; Food Microbiology ; Humans ; Latin America ; Vibrio/classification ; Vibrio/drug effects
Czasopismo naukowe
Tytuł :
Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China.
Autorzy :
Fu J; Laboratory of Forensic DNA, the Judicial Authentication Center, Southwest Medical University, Luzhou, 646000, Sichuan, China.; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, 646000, Sichuan, China.
Fu S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; School of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
Yin S; Judicial Authentication Institute, Luzhou Public Security Bureau, Luzhou, 646000, Sichuan, China.
Cheng J; Laboratory of Forensic DNA, the Judicial Authentication Center, Southwest Medical University, Luzhou, 646000, Sichuan, China.; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, 646000, Sichuan, China.
Liu X; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, 646000, Sichuan, China.
Jin Z; West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, 610041, China. .
He T; Laboratory of Forensic DNA, the Judicial Authentication Center, Southwest Medical University, Luzhou, 646000, Sichuan, China. .; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, 646000, Sichuan, China. .
Fu J; Laboratory of Forensic DNA, the Judicial Authentication Center, Southwest Medical University, Luzhou, 646000, Sichuan, China. .; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, 646000, Sichuan, China. .
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Źródło :
International journal of legal medicine [Int J Legal Med] 2021 Sep; Vol. 135 (5), pp. 1737-1741. Date of Electronic Publication: 2021 Apr 12.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Chromosomes, Human, Y*
Gene Frequency*
Genetic Loci*
Genotype*
Microsatellite Repeats*
Asian Continental Ancestry Group/*genetics
China/ethnology ; Humans ; Male
Czasopismo naukowe
Tytuł :
Allele frequency data for 23 aSTR for different ethnic groups from Republic of Zimbabwe.
Autorzy :
Borosky A; LIDMO, EME1, Independencia 644,4A, Córdoba, Argentina.
Rotondo M; Forensic Genetics Laboratory, Argentine Forensic Anthropology Team, Córdoba, Argentina.
Eppel S; Department of Anthropology, University of Cape Town, Cape Town, South Africa.
Gusmão L; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, 20550-900, Brazil.
Vullo C; LIDMO, EME1, Independencia 644,4A, Córdoba, Argentina. .; Forensic Genetics Laboratory, Argentine Forensic Anthropology Team, Córdoba, Argentina. .
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Źródło :
International journal of legal medicine [Int J Legal Med] 2021 Sep; Vol. 135 (5), pp. 1753-1765. Date of Electronic Publication: 2021 Feb 08.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Microsatellite Repeats*
Sequence Analysis, DNA*
African Continental Ancestry Group/*genetics
Ethnic Groups/*genetics
Female ; Genetics, Population ; Humans ; Male ; Zimbabwe/ethnology
Czasopismo naukowe
Tytuł :
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.
Autorzy :
Barton AR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. .; Broad Institute of MIT and Harvard, Cambridge, MA, USA. .; Bioinformatics and Integrative Genomics Program, Department of Biomedical Informatics, 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.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Mukamel RE; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Loh PR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. .; Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
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Źródło :
Nature genetics [Nat Genet] 2021 Aug; Vol. 53 (8), pp. 1260-1269. Date of Electronic Publication: 2021 Jul 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Biological Specimen Banks*
Gene Frequency*
Proteins/*genetics
Whole Exome Sequencing/*statistics & numerical data
Blood Pressure/genetics ; Chromosome Mapping/methods ; Chromosome Mapping/statistics & numerical data ; Genetic Markers ; Genome-Wide Association Study/statistics & numerical data ; Humans ; Linkage Disequilibrium ; Membrane Proteins/genetics ; Models, Genetic ; Phenotype ; Polymorphism, Single Nucleotide ; Proteins/metabolism ; Receptors, Atrial Natriuretic Factor/genetics ; United Kingdom ; Whole Exome Sequencing/methods
Czasopismo naukowe
Tytuł :
Bioinformatics Analysis of Allele Frequencies and Expression Patterns of ACE2, TMPRSS2 and FURIN in Different Populations and Susceptibility to SARS-CoV-2.
Autorzy :
Tarek M; Bioinformatics Department, Armed Forces College of Medicine, Cairo 12622, Egypt.
Abdelzaher H; Institute of Global Health and Human Ecology, School of Science and Engineering, The American University in Cairo, Cairo 12622, Egypt.
Kobeissy F; Department of Emergency Medicine, McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA.; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut 1107 2020, Lebanon.
El-Fawal HAN; Institute of Global Health and Human Ecology, School of Science and Engineering, The American University in Cairo, Cairo 12622, Egypt.
Salama MM; Institute of Global Health and Human Ecology, School of Science and Engineering, The American University in Cairo, Cairo 12622, Egypt.
Abdelnaser A; Institute of Global Health and Human Ecology, School of Science and Engineering, The American University in Cairo, Cairo 12622, Egypt.
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Źródło :
Genes [Genes (Basel)] 2021 Jul 05; Vol. 12 (7). Date of Electronic Publication: 2021 Jul 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Angiotensin-Converting Enzyme 2*/biosynthesis
Angiotensin-Converting Enzyme 2*/genetics
COVID-19*/enzymology
COVID-19*/genetics
Databases, Nucleic Acid*
Furin*/biosynthesis
Furin*/genetics
Gene Expression Regulation, Enzymologic*
Gene Frequency*
Genetic Predisposition to Disease*
Serine Endopeptidases*/biosynthesis
Serine Endopeptidases*/genetics
SARS-CoV-2/*metabolism
Computational Biology ; Female ; Humans ; Male ; SARS-CoV-2/genetics
Czasopismo naukowe
Tytuł :
Selection and evaluation of bi-allelic autosomal SNP markers for paternity testing in Koreans.
Autorzy :
Bae S; Department of Agricultural Biotechnology and Research Institute of Agriculture and Life Sciences, Seoul National University, Seoul, 08826, Republic of Korea.
Won S; Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, 08826, Republic of Korea.
Kim H; Department of Agricultural Biotechnology and Research Institute of Agriculture and Life Sciences, Seoul National University, Seoul, 08826, Republic of Korea. .; Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, 08826, Republic of Korea. .; eGnome, Inc., Seoul, Republic of Korea. .
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Źródło :
International journal of legal medicine [Int J Legal Med] 2021 Jul; Vol. 135 (4), pp. 1369-1374. Date of Electronic Publication: 2021 Apr 28.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Paternity*
Polymorphism, Single Nucleotide*
Asian Continental Ancestry Group/*genetics
Adult ; Aged ; Female ; Humans ; Likelihood Functions ; Male ; Middle Aged ; Pedigree ; Predictive Value of Tests ; Reproducibility of Results ; Republic of Korea
Czasopismo naukowe
Tytuł :
The forensic landscape and the population genetic analyses of Hainan Li based on massively parallel sequencing DNA profiling.
Autorzy :
Fan H; School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, China. .; School of Basic Medicine and Life Science, Hainan Medical University, Haikou, 571199, China. .
Du Z; First Clinical Medical College, Hainan Medical University, Haikou, 571199, China.
Wang F; First Clinical Medical College, Hainan Medical University, Haikou, 571199, China.
Wang X; Department of Psychiatry, The First Clinical Medical College, Shanxi Medical University, Taiyuan, 030001, China.
Wen SQ; Institute of Archaeological Science, Fudan University, Shanghai, 200433, China.
Wang L; Institute of Archaeological Science, Fudan University, Shanghai, 200433, China.
Du P; MOE Key Laboratory of Contemporary Anthropology and B&R International Joint Laboratory for Eurasian Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Liu H; Division of the Criminal Investigation Department, Henan Provincial Public Security Bureau, Zhengzhou, 450003, China.
Cao S; First Clinical Medical College, Hainan Medical University, Haikou, 571199, China.
Luo Z; First Clinical Medical College, Hainan Medical University, Haikou, 571199, China.
Han B; School of Traditional Chinese Medicine, Hainan Medical University, Haikou, 571199, China.
Huang P; First Clinical Medical College, Hainan Medical University, Haikou, 571199, China.
Zhu B; School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, China. .
Qiu P; School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, China. .
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Źródło :
International journal of legal medicine [Int J Legal Med] 2021 Jul; Vol. 135 (4), pp. 1295-1317. Date of Electronic Publication: 2021 Apr 13.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Genetics, Population*
Microsatellite Repeats*
Polymorphism, Single Nucleotide*
DNA Fingerprinting/*methods
Asian Continental Ancestry Group/genetics ; China/ethnology ; Datasets as Topic ; Female ; Genetic Markers ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Phylogeny ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.
Autorzy :
Sait H; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Srivastava P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Kapoor S; Division of Genetics & Metabolism, Department of Pediatrics, LokNayak Hospital and Maulana Azad Medical College, New Delhi, India.
Ranganath P; Department of Medical Genetics,Nizam's Institute of Medical Sciences, Hyderabad, India.
Rungsung I; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Saxena D; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Roy A; Department of Endocrinology, Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva Pratishthan, Kolkata, India.
Pabbati J; Department of Pediatrics, Gandhi Medical College and Hospital, Secunderabad, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Jul; Vol. 64 (7), pp. 104235. Date of Electronic Publication: 2021 May 01.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Gene Frequency*
Phenotype*
Cathepsin K/*genetics
Pycnodysostosis/*genetics
Child ; Cohort Studies ; Female ; Homozygote ; Humans ; Male ; Mutation ; Pycnodysostosis/pathology
Czasopismo naukowe
Tytuł :
Broad geographic sampling reveals the shared basis and environmental correlates of seasonal adaptation in Drosophila .
Autorzy :
Machado HE; Department of Biology, Stanford University, Stanford, United States.; Wellcome Sanger Institute, Hinxton, United Kingdom.
Bergland AO; Department of Biology, Stanford University, Stanford, United States.; Department of Biology, University of Virginia, Charlottesville, United States.
Taylor R; Department of Biology, Stanford University, Stanford, United States.
Tilk S; Department of Biology, Stanford University, Stanford, United States.
Behrman E; Department of Biology, University of Pennsylvania, Philadelphia, United States.
Dyer K; Department of Genetics, University of Georgia, Athens, United States.
Fabian DK; Institute of Population Genetics, Vetmeduni Vienna, Vienna, Austria.; Centre for Pathogen Evolution, Department of Zoology, University of Cambridge, Cambridge, United Kingdom.
Flatt T; Institute of Population Genetics, Vetmeduni Vienna, Vienna, Austria.; Department of Biology, University of Fribourg, Fribourg, Switzerland.
González J; Institute of Evolutionary Biology, CSIC- Universitat Pompeu Fabra, Barcelona, Spain.
Karasov TL; Department of Biology, University of Utah, Salt Lake City, United States.
Kim B; Department of Biology, Stanford University, Stanford, United States.
Kozeretska I; Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.; National Antarctic Scientific Centre of Ukraine, Taras Shevchenko Blvd., Kyiv, Ukraine.
Lazzaro BP; Department of Entomology, Cornell University, Ithaca, United States.
Merritt TJ; Department of Chemistry & Biochemistry, Laurentian University, Sudbury, Canada.
Pool JE; Laboratory of Genetics, University of Wisconsin-Madison, Madison, United States.
O'Brien K; Department of Biology, University of Pennsylvania, Philadelphia, United States.
Rajpurohit S; Department of Biology, University of Pennsylvania, Philadelphia, United States.
Roy PR; Department of Ecology and Evolutionary Biology, University of Kansas, Lawrence, United States.
Schaeffer SW; Department of Biology, The Pennsylvania State University, University Park, United States.
Serga S; Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.; National Antarctic Scientific Centre of Ukraine, Taras Shevchenko Blvd., Kyiv, Ukraine.
Schmidt P; Department of Biology, University of Pennsylvania, Philadelphia, United States.
Petrov DA; Department of Biology, Stanford University, Stanford, United States.
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Źródło :
ELife [Elife] 2021 Jun 22; Vol. 10. Date of Electronic Publication: 2021 Jun 22.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Adaptation, Biological*
Chromosome Inversion*
Gene Frequency*
Polymorphism, Genetic*
Drosophila melanogaster/*physiology
Animals ; Austria ; Drosophila melanogaster/genetics ; Male ; Ontario ; Seasons ; Selection, Genetic ; Spain ; Ukraine ; United States
Czasopismo naukowe
Tytuł :
Allele and haplotype frequencies of human leukocyte antigen-A, -B, -C, -DRB1, -DRB3/4/5, -DQA1, -DQB1, -DPA1, and -DPB1 by next generation sequencing-based typing in Koreans in South Korea.
Autorzy :
Baek IC; Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Choi EJ; Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Shin DH; Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Kim HJ; Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Choi H; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Kim TG; Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
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Źródło :
PloS one [PLoS One] 2021 Jun 21; Vol. 16 (6), pp. e0253619. Date of Electronic Publication: 2021 Jun 21 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Frequency*/genetics
Haplotypes*/genetics
HLA-A Antigens/*genetics
HLA-B Antigens/*genetics
HLA-C Antigens/*genetics
HLA-DP alpha-Chains/*genetics
HLA-DP beta-Chains/*genetics
HLA-DQ alpha-Chains/*genetics
HLA-DQ beta-Chains/*genetics
HLA-DRB1 Chains/*genetics
HLA-DRB3 Chains/*genetics
HLA-DRB4 Chains/*genetics
HLA-DRB5 Chains/*genetics
Asian Continental Ancestry Group/genetics ; Genetic Loci/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Republic of Korea
Czasopismo naukowe
Tytuł :
Allele frequencies of single nucleotide polymorphisms of clinically important drug-metabolizing enzymes CYP2C9, CYP2C19, and CYP3A4 in a Thai population.
Autorzy :
Sukprasong R; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Chuwongwattana S; Faculty of Medical Technology, Huachiew Chalermprakiet University, Bang Phli District, Thailand.
Koomdee N; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Jantararoungtong T; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Prommas S; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Jinda P; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Rachanakul J; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Nuntharadthanaphong N; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Jongjitsook N; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Puangpetch A; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand.
Sukasem C; Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand. .; Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Bangkok, Thailand. .
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Źródło :
Scientific reports [Sci Rep] 2021 Jun 11; Vol. 11 (1), pp. 12343. Date of Electronic Publication: 2021 Jun 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Frequency*
Polymorphism, Single Nucleotide*
Cytochrome P-450 CYP2C19/*genetics
Cytochrome P-450 CYP2C9/*genetics
Cytochrome P-450 CYP3A/*genetics
Phenotype ; Thailand
Czasopismo naukowe
Tytuł :
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Autorzy :
Park KS; Department of Laboratory Medicine, Kyung Hee University School of Medicine and Kyung Hee University Medical Center, Seoul 02447, Korea.
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Źródło :
Genes [Genes (Basel)] 2021 Jun 04; Vol. 12 (6). Date of Electronic Publication: 2021 Jun 04.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Heterozygote*
Models, Genetic*
Congenital Hypothyroidism/*genetics
Congenital Hypothyroidism/ethnology ; Ethnic Groups/genetics ; Genes, Recessive ; Humans ; Prevalence
Czasopismo naukowe
Tytuł :
Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.
Autorzy :
Yan YH; NuProbe USA, Inc., Houston, TX, USA.
Chen SX; Department of Bioengineering, Rice University, 6500 Main St, Houston, TX, 77030, USA.
Cheng LY; Department of Bioengineering, Rice University, 6500 Main St, Houston, TX, 77030, USA.
Rodriguez AY; NuProbe USA, Inc., Houston, TX, USA.
Tang R; NuProbe USA, Inc., Houston, TX, USA.
Cabrera K; NuProbe USA, Inc., Houston, TX, USA.
Zhang DY; Department of Bioengineering, Rice University, 6500 Main St, Houston, TX, 77030, USA. .; Systems, Synthetic, and Physical Biology, Rice University, 6500 Main St, Houston, TX, 77030, USA. .
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Źródło :
Scientific reports [Sci Rep] 2021 Jun 02; Vol. 11 (1), pp. 11640. Date of Electronic Publication: 2021 Jun 02.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*
Gene Frequency*
Mutation*
Carcinoma, Non-Small-Cell Lung/*genetics
DNA, Neoplasm/*genetics
Lung Neoplasms/*genetics
Alleles ; Carcinoma, Non-Small-Cell Lung/diagnosis ; Carcinoma, Non-Small-Cell Lung/pathology ; Fixatives ; Formaldehyde ; Humans ; Lung Neoplasms/diagnosis ; Lung Neoplasms/pathology ; Nucleic Acid Amplification Techniques ; Paraffin Embedding/methods ; Tissue Fixation/methods ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Pharmacogenetics at Scale: An Analysis of the UK Biobank.
Autorzy :
McInnes G; Biomedical Informfatics Training Program, Stanford University, Stanford, California, USA.
Lavertu A; Biomedical Informfatics Training Program, Stanford University, Stanford, California, USA.
Sangkuhl K; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
Klein TE; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.; Department of Medicine, Stanford University, Stanford, California, USA.
Whirl-Carrillo M; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
Altman RB; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.; Departments of Bioengineering, Genetics, and Medicine, Stanford University, Stanford, California, USA.
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Źródło :
Clinical pharmacology and therapeutics [Clin Pharmacol Ther] 2021 Jun; Vol. 109 (6), pp. 1528-1537. Date of Electronic Publication: 2020 Dec 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Databases, Factual*
Gene Frequency*
Genetic Variation*
Pharmacogenetics/*trends
European Continental Ancestry Group ; Haplotypes ; Humans ; Pharmacology ; United Kingdom
Czasopismo naukowe
Tytuł :
Genetic diversity and effective population sizes of thirteen Indian cattle breeds.
Autorzy :
Strucken EM; Centre for Genetic Analysis and Applications, School of Environmental and Rural Science, University of New England, Armidale, Australia. .
Gebrehiwot NZ; Centre for Genetic Analysis and Applications, School of Environmental and Rural Science, University of New England, Armidale, Australia.
Swaminathan M; BAIF Development Research Foundation, Pune, India.
Joshi S; BAIF Development Research Foundation, Pune, India.
Al Kalaldeh M; Centre for Genetic Analysis and Applications, School of Environmental and Rural Science, University of New England, Armidale, Australia.
Gibson JP; Centre for Genetic Analysis and Applications, School of Environmental and Rural Science, University of New England, Armidale, Australia. .
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Źródło :
Genetics, selection, evolution : GSE [Genet Sel Evol] 2021 Jun 01; Vol. 53 (1), pp. 47. Date of Electronic Publication: 2021 Jun 01.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Polymorphism, Single Nucleotide*
Cattle/*genetics
Animals ; Genotype ; India
Czasopismo naukowe
Tytuł :
A mutant gene for albino body color is widespread in natural populations of tanuki (Japanese raccoon dog).
Autorzy :
Yamamoto S; Oouchiyama Zoo.
Murase M; Oouchiyama Zoo.
Miyazaki M; Manabu Miyazaki Photography Office.
Hayashi S; Primate Research Institute, Kyoto University.
Koga A; Primate Research Institute, Kyoto University.
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Źródło :
Genes & genetic systems [Genes Genet Syst] 2021 May 08; Vol. 96 (1), pp. 33-39. Date of Electronic Publication: 2021 Mar 06.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Albinism/*genetics
Monophenol Monooxygenase/*genetics
Pigmentation/*genetics
Raccoon Dogs/*genetics
Animal Fur/metabolism ; Animals ; Mutation
Czasopismo naukowe
Tytuł :
Benchmarking the performance of Pool-seq SNP callers using simulated and real sequencing data.
Autorzy :
Guirao-Rico S; Institute of Evolutionary Biology, CSIC-Universitat Pompeu Fabra, Barcelona, Spain.
González J; Institute of Evolutionary Biology, CSIC-Universitat Pompeu Fabra, Barcelona, Spain.
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Źródło :
Molecular ecology resources [Mol Ecol Resour] 2021 May; Vol. 21 (4), pp. 1216-1229. Date of Electronic Publication: 2021 Mar 05.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
High-Throughput Nucleotide Sequencing*
Polymorphism, Single Nucleotide*
Bayes Theorem ; Computer Simulation ; Likelihood Functions
Czasopismo naukowe

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