Genetic & Genomic MedicinemedRxivPreprint
A Framework For Large-Scale Reconstruction Of Extended Pedigrees To Facilitate Gene Discovery In ALS
Daphne van Oosten, Paul Beele, Bi‐Nan Wang…·Wouter van Rheenen
This paper develops a framework to reconstruct extended pedigrees for ALS patients with the C9orf72 repeat expansion, identifying novel familial relationships and shared genomic regions.