Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health Records
Hannah C. Happ, Bryce Christensen, Stacey Knight, Alfredo Novoa, Darin Isakson, Lincoln D. Nadauld, Aaron Quinlan, Joshua L. Bonkowsky
The paper integrates genomic screening with EHR data to assess leukodystrophy penetrance and phenotypic variability, finding reduced penetrance and broad phenotypic spectra in some cases.
medRxiv · Jul 6, 2026 · PreprintGenetic & Genomic Medicine