Journal article
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Abstract
Conventional genetic testing of individuals with neurodevelopmental presentations and congenital anomalies (ND/CAs), i.e., the analysis of sequence and copy number variants, leaves a substantial proportion of them unexplained. Some of these cases have been shown to result from DNA methylation defects at a single locus (epi-variants), while others can exhibit syndrome-specific DNA methylation changes across multiple loci (epi-signatures). Here, …
Authors
Aref-Eshghi E; Bend EG; Colaiacovo S; Caudle M; Chakrabarti R; Napier M; Brick L; Brady L; Carere DA; Levy MA
Journal
American Journal of Human Genetics, Vol. 104, No. 4, pp. 685–700
Publisher
Elsevier
Publication Date
April 2019
DOI
10.1016/j.ajhg.2019.03.008
ISSN
0002-9297