Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Published 2018 View Full Article

Authors

Keywords

pediatric developmental disorders, epigenomic machinery, Kabuki syndrome, CHARGE syndrome, Floating Harbor syndrome, ATRX syndrome, Sotos syndrome, Claes-Jensen syndrome, machine learning, molecular diagnosis

Journal

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 102, Issue 1, Pages 156-174

Publisher

Elsevier BV

Online

2018-01-05

DOI

10.1016/j.ajhg.2017.12.008

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