High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing.

ABSTRACT: Hybridisation-based targeted enrichment is a widely used and well-established technique in high-throughput second-generation short-read sequencing. Despite the high potential to genetically resolve highly repetitive and variable genomic sequences by, for example PacBio third-generation sequencing, targeted enrichment for long fragments has not yet established the same high-throughput due to currently existing complex workflows and technological dependencies. We here describe a scalable targeted enrichment protocol for fragment sizes of >7 kb. For demonstration purposes we developed a custom blood group panel of challenging loci. Test results achieved > 65% on-target rate, good coverage (142.7×) and sufficient coverage evenness for both non-paralogous and paralogous targets, and sufficient

SUBMITTER: Steiert TA 

PROVIDER: S-EPMC9278042 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature