Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Abstract Background Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants...

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Bibliographic Details
Main Authors: Hayk Barseghyan, Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson, Eric Vilain
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Genome Medicine
Subjects:
Next-generation mapping
Duchenne muscular dystrophy
Bionano
Structural variants
DMD
Optical mapping
Online Access:http://link.springer.com/article/10.1186/s13073-017-0479-0

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http://link.springer.com/article/10.1186/s13073-017-0479-0

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