Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Kohei HamanakaNoriko MiyakeTakeshi MizuguchiSatoko MiyatakeYuri UchiyamaNaomi TsuchidaFutoshi SekiguchiSatomi MitsuhashiYoshinori TsurusakiMitsuko NakashimaHirotomo SaitsuKohei YamadaMasamune SakamotoHiromi FukudaSachiko OhoriKen SaidaToshiyuki ItaiYoshiteru AzumaEriko KoshimizuAtsushi FujitaBiray ErturkYoko HirakiGaik-Siew Ch'ngMitsuhiro KatoNobuhiko OkamotoAtsushi TakataNaomichi Matsumoto

Published in: Genome medicine (2022)

We identified dozens of new candidates for NDD genes. Both the methods and the resources developed here will contribute to the further identification of novel NDD-associated genes.

Keyphrases

copy number
genome wide
mitochondrial dna
bioinformatics analysis
dna methylation
genome wide identification
small molecule
transcription factor
congenital heart disease