Genetic & Genomic MedicinemedRxivPreprint
Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing
Yves Fontaine, Shreegowri Aradhya, Shannon Ji…·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.
DOI 10.1101/2025.05.08.25327265