Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma.

ABSTRACT: BACKGROUNDCurrent clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease, and the inability to assign parent of origin in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.METHODSTo directly assign parent of origin in patients with retinoblastoma, we extracted genomic DNA from blood samples for sequencing using a programmable, targeted, single-molecule, long-read DNA genomic and epigenomic approach. This allowed germline variant calling and simultaneous haplotype-resolved CpG methylation in participants with familial (n

SUBMITTER: Stacey AW 

PROVIDER: S-EPMC11949030 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature