Tandem repeated expression disorders

“We [researchers with the Garvan Institute of Medical Research, Sydney, Australia] describe the use of programmable targeted long-read sequencing with Oxford Nanopore’s ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly and DNA methylation profiling of STR sites, from a list of predetermined candidates. . . .  . we show how the inclusion of pharmacogenomic genes as secondary ReadUntil targets can further inform patient care.”   MORE

Image Credit:  Science.org