A Framework For Large-Scale Reconstruction Of Extended Pedigrees To Facilitate Gene Discovery In ALS

Abstract excerpt

Importance: With emerging gene-targeted therapies in amyotrophic lateral sclerosis (ALS), gene discoveries and genetic diagnoses provide a crucial path to treatment. Pathogenic variants with moderate effect or incomplete penetrance, however, remain unidentified in genome-wide association studies and can appear sporadic in small modern-day pedigrees. Lack of recognition of familial clustering of ALS, in turn, limit...

Topics

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• Amyotrophic Lateral Sclerosis Research
• Genomics and Rare Diseases
• Neurogenetic and Muscular Disorders Research

Identifiers and source

Literature Corpus work

e555bd5d-fae8-5b66-b1fb-81ea26a7963e

DOI

10.64898/2026.08.21.26360249