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

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.

Genetic testing and molecular biomarkers - 1 Apr 2015

Nishio Shin-Ya, Hayashi Yoshiharu, Watanabe Manabu, Usami Shin-Ichi

Abstract excerpt

BACKGROUND: Congenital hearing loss is one of the most common sensory disorders, with 50-70% of cases attributable to genetic causes. Although recent advances in the identification of deafness genes have resulted in more accurate molecular diagnosis, leading to the better determination of suitable clinical interventions, difficulties remain with regard to clinical applications due to the extreme genetic...

Read the complete abstract on PubMed

Topics

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

Share to Ear Surgery and Otitis Media
Share to Gene Library

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Genetic Testing

Share to Hearing, Cochlea, Tinnitus, Genetics

Share to Hearing Loss, Sensorineural

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 25587757
DOI: 10.1089/gtmb.2014.0252
PMCID: PMC4394162

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

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.PMID 25587757Read ↗

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Semantic proximity Read ↗

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.Semantic proximity Read ↗

The responsible genes in Japanese deafness patients and clinical application using Invader assay.Semantic proximity Read ↗

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.Semantic proximity Read ↗

Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.Semantic proximity Read ↗

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysisSemantic proximity Read ↗

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.Semantic proximity Read ↗

Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss.Semantic proximity Read ↗

Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.Semantic proximity Read ↗

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.Semantic proximity Read ↗

Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis.Semantic proximity Read ↗

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