Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients.

ABSTRACT: Inherited retinal degenerations (IRDs) are a heterogeneous group of predominantly monogenic disorders with over 300 causative genes identified. Short-read exome sequencing is commonly used to genotypically diagnose patients with clinical features of IRDs, however, in up to 30% of patients with autosomal recessive IRDs, one or no disease-causing variants are identified. Furthermore, chromosomal maps cannot be reconstructed for allelic variant discovery with short-reads. Long-read genome sequencing can provide complete coverage of disease loci and a targeted approach can focus sequencing bandwidth to a genomic region of interest to provide increased depth and haplotype reconstruction to uncover cases of missing heritability. We demonstrate that targeted adaptive long-read sequencing on the O

SUBMITTER: Nakamichi K 

PROVIDER: S-EPMC10219926 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature