Article

Incorporating calibrated functional assay data into the <i>BRCA1</i> Ex-UV database

2016-10-05

Abstract excerpt

Driven by massively parallel sequencing and allied technologies, the scale of genetic predisposition testing is on a dramatic uptrend. While many patients are found to carry clinically actionable pathogenic sequence variants, testing also reveals enormous numbers of Unclassified Variants (UV), or Variants of Uncertain Significance (VUS), most of which are rare missense substitutions. Following IARC variant classif...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fc38d9cb-26f4-5b90-9c38-281d4477d260
DOI: 10.1101/079418

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Incorporating calibrated functional assay data into the <i>BRCA1</i> Ex-UV databaseDOI 10.1101/079418Read

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.Semantic proximity Read

Resolving the Functional Significance of <i>BRCA1</i> RING Domain Missense SubstitutionsSemantic proximity Read

Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.Semantic proximity Read

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.Semantic proximity Read

A guide for functional analysis of BRCA1 variants of uncertain significance.Semantic proximity Read

AVENGERS: Analysis of Variant Effects using Next Generation sequencing to Enhance <i>BRCA2</i> StratificationSemantic proximity Read

High-Throughput Functional Evaluation of <i>BRCA2</i> Variants of Unknown SignificanceSemantic proximity Read

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.Semantic proximity Read

Machine learning approach to assess the pathogenicity of BRCA1/2 genetic variants : brca-NOVUSSemantic proximity Read

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.Semantic proximity Read

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.Semantic proximity Read

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.Semantic proximity Read