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

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 i...

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Detalles Bibliográficos
Autores principales: Field, Matthew A., Burgio, Gaetan, Chuah, Aaron, Al Shekaili, Jalila, Hassan, Batool, Al Sukaiti, Nashat, Foote, Simon J., Cook, Matthew C., Andrews, T. Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631443/
https://www.ncbi.nlm.nih.gov/pubmed/31307400
http://dx.doi.org/10.1186/s12864-019-5863-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631443/
https://www.ncbi.nlm.nih.gov/pubmed/31307400
http://dx.doi.org/10.1186/s12864-019-5863-2

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