Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

Berk ÖzyilmazO KirbiyikA KocT R OzdemirO O KayaM S GuvencK M ErdoğanY B Kutbay

Published in: Clinical genetics (2017)

With the additional data we acquired in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
electronic health record
big data
gene expression
machine learning
risk assessment
deep learning
bioinformatics analysis
genome wide analysis