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

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

Abstract 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 disproport...

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Bibliographic Details
Main Authors: Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili, Batool Hassan, Nashat Al Sukaiti, Simon J. Foote, Matthew C. Cook, T. Daniel Andrews
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Genomics
Subjects:
Single nucleotide variant
Miscall
Resampling
Exome
Alignment
Online Access:http://link.springer.com/article/10.1186/s12864-019-5863-2

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http://link.springer.com/article/10.1186/s12864-019-5863-2

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