SeqHBase: a big data toolset for family based sequencing data analysis.

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第一作者： Min,He

第一单位： Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA Department of Computation and Informatics in Biology and Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA.

作者： Min,He ^[1] ; Thomas N,Person ^[2] ; Scott J,Hebbring ^[3] ; Ethan,Heinzen ^[4] ; Zhan,Ye ^[5] ; Steven J,Schrodi ^[3] ; Elizabeth W,McPherson ^[6] ; Simon M,Lin ^[7] ; Peggy L,Peissig ^[5] ; Murray H,Brilliant ^[3] ; Jason,O'Rawe ^[8] ; Reid J,Robison ^[9] ; Gholson J,Lyon ^[10] ; Kai,Wang ^[11]

作者单位： Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA Department of Computation and Informatics in Biology and Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA. ^[1] Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA. ^[2] Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA Department of Computation and Informatics in Biology and Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA. ^[3] College of Science and Engineering, University of Minnesota-Twin Cities, Minnesota, Minnesota, USA. ^[4] Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA. ^[5] Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin, USA. ^[6] The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA. ^[7] Cold Spring Harbor Laboratory, Stanley Institute for Cognitive Genomics, Cold Spring Harbor, New York, USA. ^[8] Utah Foundation for Biomedical Research, Provo, Utah, USA. ^[9] Cold Spring Harbor Laboratory, Stanley Institute for Cognitive Genomics, Cold Spring Harbor, New York, USA Utah Foundation for Biomedical Research, Provo, Utah, USA. ^[10] Utah Foundation for Biomedical Research, Provo, Utah, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA Department of Psychiatry, University of Southern California, Los Angeles, California, USA. ^[11]

关键词 big data de novo mutations inherited homozygous or compound heterozygous mutations whole-exome sequencing whole-genome sequencing

主题词基因组, 人(Genome, Human);基因组学(Genomics);人类(Humans);突变(Mutation);序列分析, DNA(Sequence Analysis, DNA);软件(Software)

DOI 10.1136/jmedgenet-2014-102907

PMID 25587064

发布时间 2019-01-31

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准确一般字义偏差语意偏离译文作用小提交