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

ABSTRACT:

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 number mutations using CytoScan (Affymetrix). Cost and efficacy of this targeted NGS approach was compared to earlier evaluations.

Results

Average coverage depth was ∼760× (median = 600, 99.4% > 100×). Among 93 patients, 18 mutations were identified in 17 cases (18%), including 3 copy number mutations: 2 PMP22 duplications and 1 MPZ duplication. The 2 patients wi

SUBMITTER: Wang W 

PROVIDER: S-EPMC4862246 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature