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

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

American journal of human genetics - 5 Apr 2018

Shah Naisha, Hou Ying-Chen Claire, Yu Hung-Chun, Sainger Rachana, Caskey C Thomas, Venter J Craig, Telenti Amalio

Abstract excerpt

There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of pathogenic variants to the expected population prevalence of the disease. Analyses included the ACMG-recommended 59 gene-condition sets for incidental findings and 463 genes associated with 265 OrphaNet conditions. A...

Read the complete abstract on PubMed

Topics

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

Share to Disease
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Prevalence

Share to Reproducibility of Results

Share to Risk Factors

Share to Software

Share to Time Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 29625023
DOI: 10.1016/j.ajhg.2018.02.019
PMCID: PMC5985337

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.PMID 29625023Read ↗

Identification of misclassified ClinVar variants using disease population prevalenceSemantic proximity Read ↗

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burdenSemantic proximity Read ↗

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.Semantic proximity Read ↗

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.Semantic proximity Read ↗

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

Extracting and calibrating evidence of variant pathogenicity from population biobank data.Semantic proximity Read ↗

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.Semantic 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 ↗

Using large-scale population-based data to improve disease risk assessment of clinical variants.Semantic proximity Read ↗

Screen-VarCal: An Interpretable Probabilistic Framework for Recalibrating ACMG Rule-Based Variant Classification in Preventive MedicineSemantic proximity Read ↗

COBT: A gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohortsSemantic proximity Read ↗

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Semantic proximity Read ↗

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