Article
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
European journal of human genetics : EJHG - 1 Sept 2019
Schmitz-Abe Klaus, Li Qifei, Rosen Samantha M, Nori Neeharika, Madden Jill A, Genetti Casie A, Wojcik Monica H, Ponnaluri Sadhana, Gubbels Cynthia S, Picker Jonathan D, O'Donnell-Luria Anne H, Yu Timothy W, Bodamer Olaf, Brownstein Catherine A, Beggs Alan H, Agrawal Pankaj B
Abstract excerpt
Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic approach to increase the diagnostic yield. We have reanalyzed CES data for a clinically heterogeneous cohort of 102 probands with likely Mendelian conditions, including 74 negative cases and 28 cases with candidate variants, but reanalysis requested by...
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