Top Tweets for #StructuralVariant
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
#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 of interest.
🔗https://t.co/AxXNGDnip5
@MikiSchikora @IRBioUB @BSC_CNS
📹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
@toni_gabaldon
➡️ https://t.co/nVmc1a0fRI
Genome sequencing enabled finding of a homozygous RPGRIP1 deletion that is a leading cause of Achromatopsia in Japanese patients https://t.co/kpaA2YFSGD #GIMO #Achromatopsia #RPGRIP1 #GenomeSequencing #StructuralVariant
Discover More #GenomicVariation with #OpticalGenomeMapping Using the @bionano #Saphyr System. Empower Your Lab with Saphyr! From a Wide Range of Applications to Highly Sensitive Detection Across #StructuralVariant Types! 🧬🔍
Elevate your #structuralvariant research with electronic ⚡️ genome mapping
Win free SV analysis on the new OhmX™ platform by applying to the inaugural SV Discovery Grant by Dec. 8th📅
Only 22 days left to apply!
Learn more ➡️https://t.co/1Ri852uoZK
#Genomics #Bioinformatics
Thanks for visiting us at #ASHG23 last week! We unveiled OhmX™ for high-resolution #structuralvariant analysis and announced our inaugural #SVDiscovery Grant.
Ready to supercharge your research? Apply to win FREE electronic #genomemapping by Dec. 8th! https://t.co/1Ri852uoZK
Headed to #ASHG23? We’re partnering with @Hitachi_US to showcase the new OhmX™ platform for #structuralvariant analysis🧬
Stop by for live demos of OhmX and Human Chromosome Explorer™ and apply for free electronic #genomemapping
➡️https://t.co/YxvZdz6CkU
#genomics #biotech
🧬Introducing OhmX™ by Nabsys! Supercharge structural variant analysis with #electronic genome mapping. Low cost, small footprint, easy operation, and accessible analytics
Revolutionize your #structuralvariant research: https://t.co/WCwOLQCHrg
#GenomeMapping #genomics #biotech
@b_elked @HGGAdvances @ERNIthaca @LisenkaV @nevelingk @TjitskeKleefst1 @MantereTuomo @ahoischen They describe a family with X-linked non-syndromic split-hand/foot malformation #SHFM and identified a complex #structuralvariant by combining older but well-established approaches with innovative genomics technologies such as #opticalgenomemapping & WGS.
Saito-Adachi et al. @NccriOfficial analyse the structural rearrangement landscape of #GastricCancer using whole-genome sequencing, identify recurrent #StructuralVariant hotspots and the contribution of #ecDNA
#CancerResearch @NatResCancer
https://t.co/Zd9ihphVAy
Recently published: @ZechenChong and colleagues develop DeBreak, an algorithm for comprehensive and accurate #StructuralVariant #SV detection in #LongReadSequencing data across different platforms
#Genomics #CancerResearch @natrescancer
https://t.co/zof2f3e4qk
Comprehensive Structural Variant Detection: From Mosaic to Population-Level. #StructuralVariant #SV #Sniffles2 #Bioinformatics https://t.co/VOr5khokWZ @biorxivpreprint
Today is the last day to request early access to #structuralvariant kits and services at a 25% discount! Discover translocations, duplications, inversions, and deletions with Arima's kits and #bioinformatics pipeline. Request early access here 👉 https://t.co/PeasP0SUTV
The holidays may be over, but it's still not too late to get your hands on heavily discounted #structuralvariant kits & services. We are extending early access to our new SV #bioinformatics pipeline and FFPE kit by one week! Lock in your discount today 👉 https://t.co/y5951cG0p6
In case you missed it, the recording of last week's webinar is now available. Big thanks to our speakers Anthony Schmitt and Lukas Chavez for a great deep dive into the latest tools and insights on #structuralvariant detection in #oncology! More here: https://t.co/Vy0Gqg3zY3
Including Solve-RET and @ErnEyeEU, aiming at solving missing heritability in inherited retinal diseases @EJPRareDiseases #retina #3Dgenome #generegulation #retinaldisease #integratedomics #structuralvariant #OpticalMapping #organoids #CRISPR #mousemodel #singlecell
Indeed, work of the 24 European Reference Networks (ERNs) on rare diseases & conditions is very important, should be supported from 'all sides'. Research endeavours of ERNs are supported via EU-funded @EJPRareDiseases, @ERICA_RD_EU, @Solve_RD, @ImmunAID_EU and other projects.
Recent publication from our group on whole #Genome sequencing led to identification of a novel #StructuralVariant in a large Indian family affected with #XLinkedAgammaglobulinemia
https://t.co/vWcEgulmbA
First network meeting of @EJPRareDiseases Solve-RET, aiming at solving missing heritability in inherited retinal diseases #EJPRD #retina #3Dgenome #generegulation #retinaldisease #integratedomics #structuralvariant #OpticalMapping #organoids #CRISPR #mousemodel #singlecell
Another amazing talk on #StructuralVariant detection using #WholeGenome #OpticalMapping for #translocations, #insertions #CNVs and #mosaisism by Nikhil Sahajpal from @AUG_University. #CGCAnnual2020
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