Article

The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction Tools

2024-10-03

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Variant Effect Prediction (VEP) tools are essential for determining the potential pathogenicity of genetic variants, aiding clinical diagnostics and genetic counseling. However, their performance can vary depending on molecular and clinical contexts, complicating variant classification. <h4>Aim</h4> This study aims to assess the performance variability of commonly used VEP...

Topics

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

Identifiers and source

Literature Corpus work: ea582c79-0122-5bce-8cd6-800e950886fb
DOI: 10.1101/2024.10.02.614907

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction ToolsDOI 10.1101/2024.10.02.614907Read

Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools.Semantic proximity Read

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classificationSemantic proximity Read

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaSemantic proximity Read

Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity Read

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Semantic proximity Read

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.Semantic proximity Read

The ten year evolution of Sherloc, a points-based framework for genetic variant classificationSemantic proximity Read

Comprehensive evaluation of ACMG/AMP-based variant classification tools.Semantic proximity Read

Extracting and calibrating evidence of variant pathogenicity from population biobank dataSemantic proximity Read

Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes.Semantic proximity Read

Clinical evidence yield as a framework for evaluating computational predictors and multiplexed assays of variant effectSemantic proximity Read

How good are pathogenicity predictors in detecting benign variants?Semantic proximity Read