A mutation can hide another one: Think Structural Variants!

A mutation can hide another one: Think Structural Variants!

Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Variants (SNVs) or small indels. Structural Variants (S...

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Bibliographic Details
Main Authors: Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Structural Variants
Diagnosis
Charcot-Marie-Tooth
NGS
CovCopCan
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037020303536

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http://www.sciencedirect.com/science/article/pii/S2001037020303536

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