Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi, Erfan

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. [electronic resource] - American journal of human genetics 04 2019 - 685-700 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2019.03.008 doi


Cohort Studies
Computer Simulation
Congenital Abnormalities--diagnosis
DNA Copy Number Variations
DNA Methylation
Epigenomics
Gene Dosage
Genetic Diseases, Inborn--diagnosis
Genetic Variation
Genome-Wide Association Study
Genomic Imprinting
Humans
Phenotype
Sequence Analysis, DNA
Syndrome
Trinucleotide Repeat Expansion