27 Oct 2025
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WashU research news; excited to share our new paper on Chromosome 9p Syndromes 🧬 Hope you take the time to read it. Here is the link:
link.springer.com/article/10…
@WashUGenetics @washumedicine @GenomeInstitute @WashUMedPeds @washu_pathology @WashUNeurology @WashUNeurosurg @Coriell_Science @jacksonlab @illumina @WashUanesthesia @MedGenomeLabs @BCMFromtheLabs @BCM_HGSC @SickKidsNews @9p_minus #genetics #genomics #9p #deletion #duplication #translocation #structuralVariant #cnv #sv
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30 Sep 2025
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
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19 Feb 2025
#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.
🔗genomebiology.biomedcentral.…
@MikiSchikora @IRBioUB @BSC_CNS
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28 Nov 2024
📹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
➡️ youtube.com/live/Nve8LGJ7AC0…
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10 May 2024
Genome sequencing enabled finding of a homozygous RPGRIP1 deletion that is a leading cause of Achromatopsia in Japanese patients bit.ly/4dCewrA #GIMO #Achromatopsia #RPGRIP1 #GenomeSequencing #StructuralVariant
ALT Screenshot of Figure 1. Clinical findings from a representative patient (JU0960). (a) Multimodal retinal imaging showed a normal appearance by fundus photograph (first and second panels) and fundus autofluorescence imaging (third panel), and blurred outer retinal layer ellipsoid zone by OCT (fourth panel). (b) Full-field electroretinography showed normal rod system function (DA 0.01) and combined rod and cone system functions (DA 3.0 and DA 10.0) with unrecordable cone system function (LA 3.0) and 30-Hz flicker responses (LA 3.0 flicker).
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12 Mar 2024
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! 🧬🔍
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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 ➡️nabsys.com/sv-discovery-gran…
#Genomics #Bioinformatics
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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! nabsys.com/sv-discovery-gran…
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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
➡️go.nabsys.com/ashg-2023
#genomics #biotech
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🧬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: nabsys.com/
#GenomeMapping #genomics #biotech
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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.
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22 Jun 2023
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
nature.com/articles/s41467-0…
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17 Mar 2023
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
nature.com/articles/s41467-0…
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14 Apr 2022
Comprehensive Structural Variant Detection: From Mosaic to Population-Level. #StructuralVariant #SV #Sniffles2 #Bioinformatics biorxiv.org/content/10.1101/… @biorxivpreprint
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21 Jan 2022
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 👉 hubs.la/Q012Dmh30
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12 Jan 2022
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 👉 hubs.la/Q0121sFz0
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15 Dec 2021
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: hubs.la/Q010Qb6l0
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24 Sep 2021
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
20 Sep 2021
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.
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16 Jul 2021
Recent publication from our group on whole #Genome sequencing led to identification of a novel #StructuralVariant in a large Indian family affected with #XLinkedAgammaglobulinemia
journals.plos.org/plosone/ar…
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25 May 2021
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
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