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Article

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

BMC medical genomics - 11 Apr 2016

Mucaki Eliseos J, Caminsky Natasha G, Perri Ami M, Lu Ruipeng, Laederach Alain, Halvorsen Matthew, Knoll Joan H M, Rogan Peter K

Abstract excerpt

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...

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Identifiers

PMID: 27067391
DOI: 10.1186/s12920-016-0178-5
PMCID: PMC4828881

Genes

BRCA1
BRCA2
ATM
CDH1
CHEK2
PALB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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