Article
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
Human genetics - 1 Apr 2018
Lencz Todd, Yu Jin, Palmer Cameron, Carmi Shai, Ben-Avraham Danny, Barzilai Nir, Bressman Susan, Darvasi Ariel, Cho Judy H, Clark Lorraine N, Gümüş Zeynep H, Joseph Vijai, Klein Robert, Lipkin Steven, Offit Kenneth, Ostrer Harry, Ozelius Laurie J, Peter Inga, Atzmon Gil, Pe'er Itsik
Abstract excerpt
While increasingly large reference panels for genome-wide imputation have been recently made available, the degree to which imputation accuracy can be enhanced by population-specific reference panels remains an open question. Here, we sequenced at full-depth (≥ 30×), across two platforms (Illumina X Ten and Complete Genomics, Inc.), a moderately large (n = 738) cohort of samples drawn from the Ashkenazi Jewish...
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