Variant Score Ranker-a web application for intuitive missense variant prioritization.
Bioinformatics
; 35(21): 4478-4479, 2019 11 01.
Article
en En
| MEDLINE
| ID: mdl-31086968
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. AVAILABILITY AND IMPLEMENTATION: http://vsranker.broadinstitute.org. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Mutación Missense
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Alemania