Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Warren Cheung, Adam F. Johnson, William J. Rowell…·Tomi Pastinen
The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.
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