Back to search

Article

Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on <i>ATM</i> and <i>CHEK2</i> Breast Cancer Cases and Controls

2019-11-08

Abstract excerpt

The American College of Medical Genetics and Genomics (ACMG) guidelines for sequence variant classification include two criteria, PP3 and BP4, for combining computational data with other evidence types contributing to sequence variant classification. PP3 and BP4 assert that computational modeling can provide “Supporting” evidence for or against pathogenicity within the ACMG framework. Here, leveraging a meta-analy...

Topics

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

Identifiers and source

Literature Corpus work
89d773ac-34cd-56ad-b532-666c90722dc1
DOI
10.1101/835264
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on <i>ATM</i> and <i>CHEK2</i> Breast Cancer Cases and ControlsDOI 10.1101/835264
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria.Semantic proximity
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline<i>ATM</i>sequence variantsSemantic proximity
Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.Semantic proximity
Availability of benign missense variant “truthsets” for validation of functional assays: current status and a novel systematic approachSemantic proximity
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSemantic proximity
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.Semantic proximity
When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.Semantic proximity
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.Semantic proximity
Evaluating the impact of <i>in silico</i> predictors on clinical variant classificationSemantic proximity
Clinical evidence yield as a framework for evaluating computational predictors and multiplexed assays of variant effectSemantic proximity
Integrating breast tumor homologous recombination deficiency status to aid germline<i>BRCA1</i>and<i>BRCA2</i>variant classificationSemantic proximity
Select a neighboring publication to make it the new centre.