Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.

Bing XiaoWeiqian DaiYongkun ZhanWenjuan QiuHuiwen ZhangDanPing LiuNa XuYongguo Yu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2024)

Patients with PURA-NDD exhibit a specific episignature, which has potential to aid identification and diagnosis of PURA-NDD patients and offer implications for further functional investigations.

Keyphrases

genome wide
dna methylation
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
machine learning
gene expression
copy number
deep learning
prognostic factors
peritoneal dialysis
risk assessment
patient reported outcomes
transcription factor
human health
bioinformatics analysis