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

Reviewing a decade of CAP #proficiencytesting for CNVs in the constitutional setting: is platform-agnostic PT on the horizon? #copynumbervariant #microarray bit.ly/4kAHZ7Z

📢Now, it's the turn of our #researcher @SteveLaurie42! He's presenting the results of #copynumbervariant working group. ➡️Comprehensive reanalysis of copy number variant in exome sequencing data from 5,759 families results in 44 confirmed new diagnoses @Solve_RD #RareDisease

Impressive results from our #copynumbervariant working group presented by @SteveLaurie42: Comprehensive reanalysis of WES 🧬 data from 5,757 families results in 42 confirmed 🆕 diagnoses! @not_a_reptiloid @cnag_eu @josegp_92 @L_F_Johansson @FrankMusacchia @b_elked @LiedeweiVdV

We are happy to release a new #bioinformatics tool for #StructuralVariant and #CopyNumberVariant benchmarking and comparison called witty.er as the newest member of @Illumina open source family! Cited in this paper: genomebiology.biomedcentral.… github.com/Illumina/witty.er

We are pleased to announce that all of @PrevGenetics’ #PGxome (whole #exome sequencing) based sequencing tests are now validated for #copynumbervariant (CNV) detection! bit.ly/PGxomeCNV #WES