A novel statistical method for interpreting the pathogenicity of rare variants.

ABSTRACT:

Purpose

To achieve the ultimate goal of personalized treatment of patients, accurate molecular diagnosis and precise interpretation of the impact of genetic variants on gene function is essential. With sequencing cost becoming increasingly affordable, the accurate distinguishing of benign from pathogenic variants becomes the major bottleneck. Although large normal population sequence databases have become a key resource in filtering benign variants, they are not effective at filtering extremely rare variants.

Methods

To address this challenge, we developed a novel statistical test by combining sequencing data from a patient cohort with a normal control population database. By comparing the expected and observed allele frequency in the patient cohort, variants that are likely

SUBMITTER: Wang J 

PROVIDER: S-EPMC7796914 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature