Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Abstract Background Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods We applied a combination of systematic experimental and bioinformatic metho...

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Main Authors: Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Genome Medicine
Subjects:
Structural variation
Copy number variants
Neurodevelopmental disorders
Intellectual disability
Multiple congenital anomalies
Driver genes
Online Access:https://doi.org/10.1186/s13073-019-0692-0

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