Article

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

2017-06-05

Abstract excerpt

<h4>Background</h4> The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely used in diagnostic laboratories for variant interpretation. The ACMG/AMP guidelines recommend complete concordance of predictions among all in silico algorithms used without specifying the number or types of algorithms. The subjective nat...

Topics

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

Identifiers and source

Literature Corpus work: 1483f6c0-8cd8-5cb8-b471-133cacfeed1b
DOI: 10.1101/146100

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesDOI 10.1101/146100Read

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

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.Semantic proximity Read

Concordance of Automated ACMG Variant Classification with Expert-Curated Assertions: A Systematic Evaluation Using the ClinGen Evidence RepositorySemantic proximity Read

Evaluating the impact of <i>in silico</i> predictors on clinical variant classificationSemantic proximity Read

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

Automating ACMG Variant Classifications With BIAS-2015 v2.0.0: Algorithm Analysis and Benchmark Against the FDA-Approved eRepo DatasetSemantic proximity Read

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Semantic proximity Read

Challenges and Considerations in Sequence Variant Interpretation for Mendelian DisordersSemantic proximity Read

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity Read

Evaluation of<i>in silico tools</i>for variant classification in missense variants of solid cancer with actionable genetic targetsSemantic proximity Read

Updated recommendation for the benign stand‐alone ACMG/AMP criterionSemantic proximity Read

The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction ToolsSemantic proximity Read