Recurrent miscalling of missense variation from short-read genome sequence data

Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated. Furthermore, low levels...

Source: BMC Genomics - July 16, 2019 Category: Genetics & Stem Cells Authors: Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili, Batool Hassan, Nashat Al Sukaiti, Simon J. Foote, Matthew C. Cook and T. Daniel Andrews Tags: Research Source Type: research