Article
Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018
Barbitoff Yury A, Bezdvornykh Igor V, Polev Dmitrii E, Serebryakova Elena A, Glotov Andrey S, Glotov Oleg S, Predeus Alexander V
Abstract excerpt
PurposeWe comprehensively assessed the influence of reference minor alleles (RMAs), one of the inherent problems of the human reference genome sequence.MethodsThe variant call format (VCF) files provided by the 1000 Genomes and Exome Aggregation Consortium (ExAC) consortia were used to identify RMA sites. All coding RMA sites were checked for concordance with UniProt and the presence of same codon variants....
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