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

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Proceedings of the National Academy of Sciences of the United States of America - 7 Dec 2010

Shearer A Eliot, DeLuca Adam P, Hildebrand Michael S, Taylor Kyle R, Gurrola José, Scherer Steve, Scheetz Todd E, Smith Richard J H

Abstract excerpt

The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis expensive and time consuming using available methods. To assess the feasibility of target-enrichment and massively parallel sequencing technologies to interrogate all exons of all genes implicated in NSHL, we tested nine patients diagnosed with hearing loss. Solid-phase (NimbleGen) or solution-based (SureSelect) sequence...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Hearing, Cochlea, Tinnitus, Genetics

Share to Hearing Loss

Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 21078986
DOI: 10.1073/pnas.1012989107
PMCID: PMC3000272

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.PMID 21078986Read ↗

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing lossSemantic proximity Read ↗

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.Semantic proximity Read ↗

High-throughput sequencing to decipher the genetic heterogeneity of deafness.Semantic proximity Read ↗

Advancing genetic testing for deafness with genomic technology.Semantic proximity Read ↗

Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.Semantic proximity Read ↗

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic ApproachSemantic proximity Read ↗

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approachSemantic proximity Read ↗

Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical PracticeSemantic proximity Read ↗

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.Semantic proximity Read ↗

Whole-exome sequencing and its impact in hereditary hearing loss.Semantic proximity Read ↗

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

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