This study demonstrated enhanced #structuralvariant (SV) detection by #genomesequencing (GS), supporting the utility of GS as the sequencing backbone to detect, characterize, and interpret SVs of cancer predisposition genes bit.ly/3VJwUqX #GIMO #CopyNumberVariant #DRAGEN
#ERGAReads | 🔍 Structural variants (SVs) are key to genomic variation but often go undetected. This week we highlight PerSVade, a pipeline that optimizes #StructuralVariant detection in any species.
🔗 genomebiology.biomedcentral.com/articles/10....
@irbio-ub.bsky.social @bsc-cns.bsky.social
📹 The recording of the latest #ERGA seminar is available: learn more about PerSVade, a tool that allows personalized #StructuralVariant detection in any species of interest 🧬
www.youtube.com/live/Nve8LGJ...
Seminar and short tutorial by Miquel Schikora, researcher at @irbbarcelona.bsky.social
