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Article

Challenges in whole exome sequencing: an example from hereditary deafness.

PloS one - 1 Jan 2012

Sirmaci Asli, Edwards Yvonne J K, Akay Hatice, Tekin Mustafa

Abstract excerpt

Whole exome sequencing provides unprecedented opportunities to identify causative DNA variants in rare Mendelian disorders. Finding the responsible mutation via traditional methods in families with hearing loss is difficult due to a high degree of genetic heterogeneity. In this study we combined autozygosity mapping and whole exome sequencing in a family with 3 affected children having nonsyndromic hearing loss...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22363784
DOI: 10.1371/journal.pone.0032000
PMCID: PMC3283682

Genes

GIPC3
ZNF57

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.

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