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Article

Gene-specific pathogenicity predictor for chromatin remodeling BAF complex-associated neurodevelopmental disorders.

HGG advances - 9 Apr 2026

Hack Joshua, Nazim Mohammad

Abstract excerpt

Advancements in whole-genome sequencing have increased the number of variants of uncertain significance (VUS) identified in human genomes. This has created a diagnostic bottleneck for genetic counselors tasked with sifting through these variants and determining those most likely to be causative for a patient's clinical presentation. Machine learning (ML) tools can aid in identifying pathogenic variants from VUS,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41764075
DOI: 10.1016/j.xhgg.2026.100583
PMCID: PMC13000492

Genes

SMARCA2
SMARCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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