GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.

ABSTRACT:

Background

Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of several, mostly independent, computational tools. To streamline variant interpretation, we developed the GeneTerpret platform which collates data from current interpretation tools and databases, and applies a phenotype-driven query to categorize the variants identified in the genome(s). The platform assigns quantitative validity scores to genes by query and assembly of the genotype-phenotype data, sequence homology, molecular interactions, expression data, and animal models. It also uses the American College of Medical Genetics and Genomics (ACMG) criteria to categ

SUBMITTER: Manshaei R 

PROVIDER: S-EPMC8857790 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature