A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

ABSTRACT:

Background

Sequencing of both healthy and disease singletons yields many novel and low frequency variants of uncertain significance (VUS). Complete gene and genome sequencing by next generation sequencing (NGS) significantly increases the number of VUS detected. While prior studies have emphasized protein coding variants, non-coding sequence variants have also been proven to significantly contribute to high penetrance disorders, such as hereditary breast and ovarian cancer (HBOC). We present a strategy for analyzing different functional classes of non-coding variants based on information theory (IT) and prioritizing patients with large intragenic deletions.

Methods

We captured and enriched for coding and non-coding variants in genes known to harbor mutations that increase HB

SUBMITTER: Mucaki EJ 

PROVIDER: S-EPMC4828881 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature