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

Abstract 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 bias...

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Bibliografiske detaljer

Principais autores:	Yury A. Barbitoff, Ruslan Abasov, Varvara E. Tvorogova, Andrey S. Glotov, Alexander V. Predeus
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2022-02-01
Serier:	BMC Genomics
Fag:	Whole genome sequencing Whole exome sequencing Variant calling Pipeline Benchmark Performance comparison
Online adgang:	https://doi.org/10.1186/s12864-022-08365-3
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