Reanalysis of Clinical Exome Sequencing Data.

Pengfei LiuLinyan MengElizabeth A NormandFan XiaXiaofei SongAndrew GhaziJill RosenfeldPilar L MagoulasAlicia BraxtonPatricia WardHongzheng DaiBo YuanWeimin BiRui XiaoXia WangTheodore ChiangFrancesco VetriniWeimin HeHanyin ChengJie DongCharul GijavanekarPaul J BenkeJonathan A BernsteinTanya EbleYasemen ErogluDeanna ErwinLuis EscobarJames B GibsonKaren GrippSoledad KleppeMary K KoenigAndrea M LewisMarvin NatowiczPedro ManciasLaKeesha MinorFernando ScagliaChristian P SchaafHaley StreffHilary VernonCrescenda L UhlesElaine H ZackaiNan WuV Reid SuttonArthur L BeaudetDonna MuznyRichard A GibbsJennifer E PoseySeema LalaniChad ShawChristine M EngJames R LupskiYaping Yang

Published in: The New England journal of medicine (2019)

Keyphrases

electronic health record
single cell
copy number
gene expression
data analysis