Art

J-GLOBAL ID：201902230664615286   Reference number：19A0398794

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

集団設定における推定疾患原因変異体の病原性,penetranceおよび表現性の評価【JST・京大機械翻訳】

Author (12)： Wright Caroline F. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  West Ben (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Tuke Marcus (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Jones Samuel E. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Patel Kashyap (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Laver Thomas W. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Beaumont Robin N. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Tyrrell Jessica (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Wood Andrew R. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Frayling Timothy M. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Hattersley Andrew T. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK) ,  Weedon Michael N. (Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK)
Material： American Journal of Human Genetics  (AJHG)
Volume： 104  Issue： 2  Page： 275-286  Publication year： 2019 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： More than 100,000 genetic vari...

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Thesaurus term： Uncertainty ,  Diabetes Mellitus ,  allele ,  database ,  Genotype ,  sensitivity ,  Europe ,  gene ,  *pathogenicity ,  permeability ,  recessive ,  penetrant ,  juvenile ,  microarray
Semi thesaurus term： 発生異常 , 【Automatic Indexing@JST】

Author keywords (8)： genotyping ,  rare variant ,  SNP-chip ,  pathogenicity ,  penetrance ,  biobank ,  genetic ,  variant

JST classification (3)： Molecular genetics in general  (EC02010J) ,  Genetic variation  (EC01030Y) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Terms in the title (8)： 集団 ,  推定 ,  疾患 ,  原因 ,  変異体 ,  病原性 ,  表現性 ,  評価