NCM 2023 Houston: Complex phased variants in inherited retinal diseases with long-read sequencing

Genome sequencing can better identify disease-causing variants in inherited retinal diseases (IRDs), however, all known IRD genomic loci constitute less than 3% of total DNA in the human genome. Targeted enrichment utilizing adaptive sampling on the Oxford Nanopore Technologies platform avoids wasting sequencing bandwidth on uninformative reads to allow much deeper coverage from the same sequencing effort. In this talk we will discuss how real-time analysis can be performed to allow target enrichment by directly rejecting or accepting DNA molecules without specialized sample preparation to generate phased data sets for narrowing of disease-causing variants from the proband alone and reveal candidate non-coding variants in cases of missing heritability.