Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Genome biology - 28 Nov 2017

Ghosh Rajarshi, Oak Ninad, Plon Sharon E

Abstract excerpt

BACKGROUND: 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 nature of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Algorithms
Share to Computational Biology
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genome, Human

Share to Guidelines as Topic

Share to Reproducibility of Results

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 29179779
DOI: 10.1186/s13059-017-1353-5
PMCID: PMC5704597

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.PMID 29179779Read ↗

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

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

Sources of discordance among germ-line variant classifications in ClinVar.Semantic proximity Read ↗

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

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

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

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.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 ↗

The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.