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Article

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.

The Journal of molecular diagnostics : JMD - 1 Sept 2016

Alame Melissa, Lacourt Delphine, Zenagui Reda, Mechin Déborah, Danton Fabienne, Koenig Michel, Claustres Mireille, Cossée Mireille

Abstract excerpt

Diagnosis of dystrophinopathies needs to combine several techniques for detecting copy number variations (CNVs; two-thirds of mutations) and single nucleotide variations (SNVs). We participated in the design of an amplicon-based PCR kit (Multiplicom) for sequencing with a GS-Junior instrument (Roche) and later with a MiSeq instrument (Illumina). We compared two different software programs, MiSeq Reporter...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Share to Muscular Dystrophy, Duchenne

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Source

Identifiers

PMID: 27425820
DOI: 10.1016/j.jmoldx.2016.05.003

Genes

DMD

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