Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

BACKGROUND: Accurate variant detection in the coding regions of the human genome is a key requirement for molecular diagnostics of Mendelian disorders. Efficiency of variant discovery from next-generation sequencing (NGS) data depends on multiple factors, including reproducible coverage biases of NG...

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Detalles Bibliográficos
Autores principales: Barbitoff, Yury A., Abasov, Ruslan, Tvorogova, Varvara E., Glotov, Andrey S., Predeus, Alexander V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862519/
https://www.ncbi.nlm.nih.gov/pubmed/35193511
http://dx.doi.org/10.1186/s12864-022-08365-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862519/
https://www.ncbi.nlm.nih.gov/pubmed/35193511
http://dx.doi.org/10.1186/s12864-022-08365-3

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