Toward automation of germline variant curation in clinical cancer genetics.

ABSTRACT:

Purpose

Cancer care professionals are confronted with interpreting results from multiplexed gene sequencing of patients at hereditary risk for cancer. Assessments for variant classification now require orthogonal data searches and aggregation of multiple lines of evidence from diverse resources. The clinical genetics community needs a fast algorithm that automates American College of Medical Genetics and Genomics (ACMG) based variant classification and provides uniform results.

Methods

Pathogenicity of Mutation Analyzer (PathoMAN) automates germline genomic variant curation from clinical sequencing based on ACMG guidelines. PathoMAN aggregates multiple tracks of genomic, protein, and disease specific information from public sources. We compared expertly curated variant data

SUBMITTER: Ravichandran V 

PROVIDER: S-EPMC6703969 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature