Population-scale detection of methylation outliers from long-read genome sequencing
Tanner D. Jensen, Rhina Kaur, Devon E. Bonner, Jon Nguyen, Chloe M. Reuter, Euan Angus Ashley, Jonathan Adam Bernstein, Matthew Thomas Wheeler, Stephen B. Montgomery
METAFORA calls depth-aware, covariate-adjusted methylation outlier regions from PacBio and Nanopore long reads; in 551 rare-disease genomes, outliers tracked structural variants, repeat expansions, and imprinting defects.
medRxiv · Jun 11, 2026 · PreprintGenetic & Genomic Medicine✦ In-depth digest