From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected, structural variations (SVs) such as copy number variants (CNVs) are ofte...

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Bibliographic Details
Main Authors: Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Journal of Personalized Medicine
Subjects:
Charcot–Marie–Tooth
structural variation
<i>SH3TC2</i>
CovCopCan
NGS
Online Access:https://www.mdpi.com/2075-4426/12/2/212

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