NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders.

Xuanshi Liu Xiaochen BoFei LengPeng ZhangRuolan GuoYue ZhangChanjuan HaoXin Ni Wei Li

Published in: BMJ paediatrics open (2023)

NeuroCNVscore prioritises functional, deleterious and pathogenic CNVs in NDDs at whole genome-wide level, which is important for genetic studies and clinical genomic screening of NDDs as well as for providing novel biological insights into NDDs.

Keyphrases

genome wide
copy number
dna methylation
case control
congenital heart disease
pseudomonas aeruginosa