Article
Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.
BMC genomics - 22 Feb 2022
Barbitoff Yury A, Abasov Ruslan, Tvorogova Varvara E, Glotov Andrey S, Predeus Alexander V
Abstract excerpt
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 NGS methods and the performance of read alignment and variant calling software. Although variant caller benchmarks are...
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