Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing
Yves Fontaine, Shreegowri Aradhya, Shannon Ji, Etienne Masle‐Farquhar, Isabelle Bosi, Julia Forkgen, Zhen Qiao, Igor Stevanovski, Andre L. M. Reis, Melissa Rapadas, Dan Suan, Peter Hsu, Brynn Kevin Wainstein, Alex William Hewitt, Gemma Alexandra Figtree, , Owen M. Siggs
This paper uses long-read sequencing to simultaneously detect genetic variation and methylation, enabling phenotypic classification of inherited and acquired genetic diseases.
medRxiv · May 8, 2025 · PreprintGenetic & Genomic Medicine