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

出版年份 2018 全文链接

标题

作者

关键词

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

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 102, Issue 1, Pages 156-174

出版商

Elsevier BV

发表日期

2018-01-05

DOI

10.1016/j.ajhg.2017.12.008

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