Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

E Di GregorioE RiberiE F BelligniE BiaminoM SpielmannU AlaA CalciaI BagnascoD CarliG GaiM GiordanoA GualaR KellerG MandrileC ArduinoA MaffèV G NarettoF SirchiaL SorasioS UngariA ZontaG ZacchettiF TalaricoP PappiS CavalieriE GiorgioC ManciniM FerreroA BrussinoE SavinM GandioneA PelleD F GiachinoM De MarchiG RestagnoP ProveroM Cirillo SilengoE GrossoJ D BuxbaumB PasiniS De RubeisAlfredo BruscoG B Ferrero

Published in: Clinical genetics (2017)

We show how phenotypic and genetic analyses of array-CGH data allow unraveling complex cases, identifying rare disease genes, and revealing unexpected position effects.

Keyphrases

copy number
intellectual disability
genome wide
mitochondrial dna
autism spectrum disorder
dna methylation
gene expression
big data
bioinformatics analysis
high resolution
mass spectrometry
electronic health record
high throughput
high density
genome wide analysis
artificial intelligence