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

Field, Matthew; Burgio, Gaetan; Chuah, Aaron; Al Shekaili, Jalila; Hassan, Batool; Al Sukaiti, Nashat; Foote, Simon; Cook, Matthew; Andrews, Dan


Background 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 of undetected variant miscalling will have a systematic and disproportionate impact on the interpretation of individual genome sequence information, especially should these also be carried through into in reference databases of genomic variation. Results We find that...[Show more]

CollectionsANU Research Publications
Date published: 2019
Type: Journal article
Source: BMC Genomics
DOI: 10.1186/s12864-019-5863-2
Access Rights: Open Access


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