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
newly diagnosed
chronic kidney disease
machine learning
copy number
prognostic factors
deep learning
risk assessment
congenital heart disease