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

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.

PLoS computational biology - 1 Sept 2022

Melidis Damianos P, Landgraf Christian, Schmidt Gunnar, Schöner-Heinisch Anja, von Hardenberg Sandra, Lesinski-Schiedat Anke, Nejdl Wolfgang, Auber Bernd

Abstract excerpt

Since next-generation sequencing (NGS) has become widely available, large gene panels containing up to several hundred genes can be sequenced cost-efficiently. However, the interpretation of the often large numbers of sequence variants detected when using NGS is laborious, prone to errors and is often difficult to compare across laboratories. To overcome this challenge, the American College of Medical Genetics...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Testing
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Hearing Loss

Share to Mutation

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 36129964
DOI: 10.1371/journal.pcbi.1009785
PMCID: PMC9529123

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

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.PMID 36129964Read ↗

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing lossSemantic proximity Read ↗

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.Semantic proximity Read ↗

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.Semantic proximity Read ↗

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossSemantic proximity Read ↗

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing LossSemantic proximity Read ↗

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossSemantic proximity Read ↗

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Semantic proximity Read ↗

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Semantic proximity Read ↗

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.Semantic proximity Read ↗

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.Semantic proximity Read ↗

Genomic Landscape and Mutational Signatures of Deafness-Associated GenesSemantic proximity Read ↗

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.Semantic proximity Read ↗

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