Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles
Rostislav K. Skitchenko, Julia Kornienko, Evgeniia M. Maksiutenko, Andrey Sergeyevich Glotov, Alexander V. Predeus, Yury A. Barbitoff
This study identifies population-specific protein-truncating variants and introduces LoFfeR, a tool that improves the annotation of low-confidence loss-of-function alleles by filtering more variants with the same false positive rate.
bioRxiv · Aug 17, 2020 · PreprintGenomics