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

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.

Scientific reports - 12 Sept 2017

He Longxia, Pang Xiuhong, Chen Penghui, Wang Xiaowen, Yang Tao, Wu Hao

Abstract excerpt

For recessive Mendelian disorders, determining the pathogenicity of rare, non-synonymous variants in known causative genes can be challenging without expanded pedigrees and/or functional analysis. In this study, we proposed to establish a database of rare but benign variants in recessive deafness genes by systematic carrier re-sequencing. As a pilot study, 30 heterozygous carriers of pathogenic variants for...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Databases, Genetic
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Association Studies

Share to Heterozygote

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28900111
DOI: 10.1038/s41598-017-10099-2
PMCID: PMC5595904

Genes

CDH23
GJB2
LOXHD1

Variants

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

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.PMID 28900111Read ↗

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

Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patientsSemantic proximity Read ↗

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.Semantic proximity Read ↗

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing LossSemantic proximity Read ↗

Genetic Screening of a Chinese Cohort of Children with Hearing Loss using a Next-Generation Sequencing PanelSemantic proximity Read ↗

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.Semantic proximity Read ↗

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Semantic proximity Read ↗

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Semantic proximity Read ↗

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Semantic proximity Read ↗

Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.Semantic proximity Read ↗

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Semantic proximity Read ↗

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