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

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.

Human mutation - 1 Sept 2013

Cassa Christopher A, Tong Mark Y, Jordan Daniel M

Abstract excerpt

It is now affordable to order clinically interpreted whole-genome sequence reports from clinical laboratories. One major component of these reports is derived from the knowledge base of previously identified pathogenic variants, including research articles, locus-specific, and other databases. While over 150,000 such pathogenic variants have been identified, many of these were originally discovered in small...

Read the complete abstract on PubMed

Topics

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

Share to Databases, Genetic
Share to Gene Frequency
Share to Genome, Human

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

Share to Heterozygote

Share to Homozygote

Share to Incidental Findings

Share to Penetrance

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 23818451
DOI: 10.1002/humu.22375
PMCID: PMC3786140

Genes

MAF

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.PMID 23818451Read ↗

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Semantic proximity Read ↗

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale TestingSemantic proximity Read ↗

Finding the Rare Pathogenic Variants in a Human Genome.Semantic proximity Read ↗

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Semantic proximity Read ↗

Actionable, pathogenic incidental findings in 1,000 participants' exomes.Semantic proximity Read ↗

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?Semantic proximity Read ↗

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale TestingSemantic proximity Read ↗

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome SequencingSemantic proximity Read ↗

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

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Semantic proximity Read ↗

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.Semantic proximity Read ↗

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.Semantic proximity Read ↗

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