Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
Ruslan Abasov, Varvara E. Tvorogova, Andrey Sergeyevich Glotov, Alexander V. Predeus, Yury A. Barbitoff
The paper benchmarks variant calling pipelines on gold standard datasets, finding DeepVariant performs best and highlighting the need for diverse reference genomes.
BMC Genomics · Feb 22, 2022Peer-reviewedBioinformatics