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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
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 |
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