Happening now, @pacbio.bsky.social PureTarget poster presented by @jocelyne8.bsky.social at #ACMG poster #340. Learn about PureTarget for scalable #HiFi sequencing of native DNA #repeatexpansions #longreads

nf-core/pacvar: a pipeline for analyzing longread PacBio whole genome and repeat expansion sequencing data AbstractMotivation. Pacific Biosciences (PacBio) single molecule, long-read sequencing enables whole genome annotation and the characterization of 20 compl

nf-core/pacvar: a pipeline for analyzing longread PacBio whole genome and repeat expansion sequencing data. #WGS #RepeatExpansions @pacbio.bsky.social @nf-co.re #Bioinformatics 🧬 🖥️
academic.oup.com/bioinformati...

Thank you so much to everyone who contributed to this work which resulted in a fascinating insight into #RepeatExpansions