Explorations to improve the completeness of exome sequencing.

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作者： Chen,Du ^[1] ; Barbara N,Pusey ^[1] ; Christopher J,Adams ^[1] ; C Christopher,Lau ^[1] ; William P,Bone ^[1] ; William A,Gahl ^[1] ; Thomas C,Markello ^[1] ; David R,Adams ^[2]

作者单位： NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA. ^[1] NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA. dadams1@mail.nih.gov. ^[2]

关键词 Analytical quality Clinical exome sequencing Clinical genomics Completeness problem False negative results Performance enhancement Rare diseases

主题词高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);序列分析, DNA(Sequence Analysis, DNA)

DOI 10.1186/s12920-016-0216-3

PMID 27568008

发布时间 2018-11-13

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