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 https://t.co/Q0NaY4WhPx #GIMO #CopyNumberVariant #DRAGEN

📢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

#ricercainStatale Su "BMC Genomics", uno studio - coordinato da @LaStatale -ha contribuito a caratterizzare il genoma di 14 razze di gatto e ha rilasciato la prima mappa dei #CopyNumberVariant della specie. Nella foto, esemplare di gatto abissino 😺 https://t.co/Z3vnWsjni5

Reviewing a decade of CAP #proficiencytesting for CNVs in the constitutional setting: is platform-agnostic PT on the horizon? #copynumbervariant #microarray https://t.co/6yITycrNRE

Only one more day to register for our coffee break webinar with Dr. Elan Hahn. Are you planning to join us? Click here to register: https://t.co/lG0Q6HOp7o #wes #wholeexomesequencing #cnv #copynumbervariant #genomics

We are pleased to announce that all of @PrevGenetics’ #PGxome (whole #exome sequencing) based sequencing tests are now validated for #copynumbervariant (CNV) detection! https://t.co/KXD3DgxsjW #WES

#braindisorders_2021 #Study reports #absence of #disorder, people carrying #CopyNumberVariant (CNV) associated disorders impaired #cognition. #CNVs, known to increase risk of #schizophrenia, #autism #intellectual disability. To know more: https://t.co/6xatsu2bwk

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

#Bacterias are explaining many more things. Now, how the birds got their wings. #metagenomics #copynumbervariant #CNV

#braindisorders2019 #Study reports #absence of #disorder, people carrying #CopyNumberVariant (CNV) associated disorders impaired #cognition. #CNVs, known to increase risk of #schizophrenia, #autism #intellectual disability. To know more: https://t.co/zc137aQs9X

We are happy to release a new #bioinformatics tool for #StructuralVariant and #CopyNumberVariant benchmarking and comparison called https://t.co/hZe382k2WS as the newest member of @Illumina open source family! Cited in this paper: https://t.co/rHl0SR0Ryv https://t.co/rzwn6b0xxH

A high-resolution copy-number variation resource for clinical and population genetics #CNV #copynumbervariant http://t.co/FIxBCWzMAf