Variant Score Ranker-a web application for intuitive missense variant prioritization

Du, Juanjiangmeng; Sudarsanam, Monica; Perez-Palma, Eduardo; Ganna, Andrea; Francioli, Laurent; Iqbal, Sumaiya; Niestroj, Lisa-Marie; Leu, Costin; Weisburd, Ben; Poterba, Tim; Nuernberg, Peter; Daly, Mark J.; Palotie, Aarno; May, Patrick; Lal, Dennis


Motivation: The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same gene. However, most of the existing variant annotation tools do not reference the score range of benign population variants on gene level. Results: We present a web-application, Variant Score Ranker, which enables users to rapidly annotate variants and perform gene-specific variant score ranking on the population level. We also provide an intuitive example of how gene- and population-calibrated variant ranking scores can improve epilepsy variant prioritization.

Más información

Título según WOS: ID WOS:000499323900054 Not found in local WOS DB
Título de la Revista: BIOINFORMATICS
Volumen: 35
Número: 21
Fecha de publicación: 2019
Página de inicio: 4478
Página final: 4479


Notas: ISI