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Article

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

American journal of medical genetics. Part A - 1 Jan 2013

Schrauwen Isabelle, Sommen Manou, Corneveaux Jason J, Reiman Rebecca A, Hackett Nicole J, Claes Charlotte, Claes Kathleen, Bitner-Glindzicz Maria, Coucke Paul, Van Camp Guy, Huentelman Matthew J

Abstract excerpt

Implementing DNA diagnostics in clinical practice for extremely heterogeneous diseases such as hearing loss is challenging, especially when attempting to reach high sensitivity and specificity in a cost-effective fashion. Next generation sequencing has enabled the development of such a test, but the most commonly used genomic target enrichment methods such as hybridization-based capture suffer from restrictions....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23208854
DOI: 10.1002/ajmg.a.35737

Genes

GJB2

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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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