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Article

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Neurology - 10 May 2016

Wang Wei, Wang Chen, Dawson D Brian, Thorland Erik C, Lundquist Patrick A, Eckloff Bruce W, Wu Yanhong, Baheti Saurabh, Evans Jared M, Scherer Steven S, Dyck Peter J, Klein Christopher J

Abstract excerpt

OBJECTIVE: To assess the efficiency of target-enrichment next-generation sequencing (NGS) with copy number assessment in inherited neuropathy diagnosis. METHODS: A 197 polyneuropathy gene panel was designed to assess for mutations in 93 patients with inherited or idiopathic neuropathy without known genetic cause. We applied our novel copy number variation algorithm on NGS data, and validated the identified copy...

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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: 27164712
DOI: 10.1212/WNL.0000000000002659
PMCID: PMC4862246

Genes

PMP22
MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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