Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.

ABSTRACT:

Purpose

Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic networks and molecular pathways that govern neurulation. This study aims to delineate genome-wide regulatory signatures underlying SB pathophysiology.

Methods

An untargeted, genome-wide approach was used to interrogate regulatory regions for rare single-nucleotide and copy-number variants (rSNVs and rCNVs, respectively) predicted to affect gene expression, comparing results from SB patients with healthy controls. Qualifying variants were subjected to a deep learning prioritization framework to identify the most functionally relevant variants, as well as the like

SUBMITTER: Wolujewicz P 

PROVIDER: S-EPMC11613821 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature