Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

ABSTRACT: We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P ( www.ebi.ac.uk/gene2phenotype ) as an online system to establish, curate and distribute datasets for diagnostic variant filtering via association of allelic requirement and mutational consequence at a defined locus with phenotypic terms, confidence level and evidence links. An extension to Ensembl Variant Effect Predictor (VEP), VEP-G2P was used to filter both disease-associated and control whole exome sequence (WES) with Developmental Disorders G2P (G2P^DD; 2044 entries). VEP-G2P^DD shows a sensitivity/precision of 97.3%/33% for de novo and 81.6%/22.7% for inherited pathogenic genotypes re

SUBMITTER: Thormann A 

PROVIDER: S-EPMC6542828 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature