Article

Topological Deep Learning Identifies Polygenic Variant Clusters Across Familial Multimorbid Disorders

2026-06-09

Abstract excerpt

Whole-genome sequencing comprehensively captures coding, non-coding and structural variation in families with suspected inherited disorders, yet its clinical utility remains constrained by an interpretation bottleneck: selecting a handful of relevant variants from millions of candidates. Current rule-based pipelines, anchored in ACMG/AMP criteria, excel at identifying highly penetrant Mendelian alleles but frequen...

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Literature Corpus work: 5d099764-e3b7-54f9-864d-713964553b0d
DOI: 10.64898/2026.06.03.26354242

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