Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

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第一作者： Kristin D,Kernohan

第一单位： Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

作者： Kristin D,Kernohan ^[1] ; Taila,Hartley ^[1] ; Najmeh,Alirezaie ^[2] ; Care4Rare Canada Consortium ^[1] ; Peter N,Robinson ^[3] ; David A,Dyment ^[4] ; Kym M,Boycott ^[1]

作者单位： Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. ^[1] McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada. ^[2] The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut. ^[3] Institute for Systems Genomics, University of Connecticut, Farmington, Connecticut. ^[4] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. ^[5]

关键词 Human Phenotype Ontology (HPO)clinical exome sequencing exome filtering phenotype driven analysis

主题词计算生物学(Computational Biology);数据库, 遗传学(Databases, Genetic);人类(Humans);回顾性研究(Retrospective Studies);序列分析, DNA(Sequence Analysis, DNA);软件(Software)

DOI 10.1002/humu.23374

PMID 29193559

发布时间 2019-01-07

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准确一般字义偏差语意偏离译文作用小提交