Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

Summary: Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in part, a result of the fact that many genetic varian...

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Bibliographic Details
Main Authors: Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B. Plott, Jerry Jenkins, David E. Gray, James M. Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:HGG Advances
Subjects:
long read sequencing
clinical sequencing
neurodevelopmental disorder
structural variation
mobile element insertion
Online Access:http://www.sciencedirect.com/science/article/pii/S266624772100004X

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http://www.sciencedirect.com/science/article/pii/S266624772100004X

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