Identifying associations of de novo noncoding variants with autism through integration of gene expression, sequence, and sex information

Abstract Background Whole-genome sequencing (WGS) data has facilitated genome-wide identification of rare noncoding variants. However, elucidating these variants’ associations with complex diseases remains challenging. A previous study utilized a deep-learning-based framework and reported a signific...

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Bibliographic Details
Main Authors: Runjia Li, Jason Ernst
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Genome Biology
Online Access:https://doi.org/10.1186/s13059-025-03619-1
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