MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

doi:10.1016/j.jmoldx.2018.03.009

Article

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

The Journal of molecular diagnostics : JMD - 1 Jul 2018

Yauy Kevin, Baux David, Pegeot Henri, Van Goethem Charles, Mathieu Charly, Guignard Thomas, Juntas Morales Raul, Lacourt Delphine, Krahn Martin, Lehtokari Vilma-Lotta, Bonne Gisele, Tuffery-Giraud Sylvie, Koenig Michel, Cossée Mireille

Abstract excerpt

Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the pathogenicity of variants identified in large genes, especially TTN; current in silico prediction tools show limitations in predicting and ranking the numerous variants of such genes. We propose a...

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MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

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