Article

AlphaGenome identifies a deep intronic variant in a family with PLA2G6-associated neurodegeneration: Closing the diagnostic gap in rare genetic diseases

2026-06-18

Abstract excerpt

A molecular diagnosis remains out of reach for a substantial subset of patients with clinically recognizable Mendelian disorders, even after comprehensive next-generation sequencing. Causal variants in non-coding regions are difficult to detect and interpret using standard pipelines. Deep intronic variants that disrupt splicing are a known but underexplored source of pathogenic alleles, and systematic tools to eva...

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Literature Corpus work: 90ce52d4-2f46-5704-aea2-0ea4e8b919b9
DOI: 10.64898/2026.06.10.26355004

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