Top Tweets for #StructuralVariants
🧬 New study from CDFD combines #OpticalGenomeMapping and #LongReadSequencing to detect complex structural DNA variants often missed by conventional tests.
@BricDbt @IndiaDST @DBTIndia
#CDFD #Genomics #GeneticTesting #PrecisionMedicine #RareDiseases #StructuralVariants
SNPs not explaining your candidate region? SVs — deletions, duplications, inversions, CNVs — may be the answer. CD Genomics SV & Haplotype: sequencing → detection → phasing → interpretation. https://t.co/1LX4lPKfQw #StructuralVariants #Genomics
Decoding hidden genome variation just got easier 🧬
NanoVar simplifies structural variant detection from long-read sequencing—fast, reliable, and accessible even for beginners.
🔗https://t.co/y6tosjHWph
#Genomics #Bioinformatics #Sequencing #StructuralVariants
This week: representatives from @myriadgenetics & @PacBio demonstrate how their long-read sequencing approach successfully improves prenatal carrier screening: https://t.co/2wc6mTIn2R
#Diagnostics #Genetics #StructuralVariants #PacBio #MyriadGenetics #PrenatalScreening
Dr. Barseghyan et al. show that #OpticalGenomeMapping effectively detects #StructuralVariants and aligns well with traditional methods, but its detection capabilities are limited in #centromeric and #pseudoautosomal regions.
Read at: https://t.co/GyGFwtTiKA
Learn how long-read sequencing assays are being deployed to improve prenatal carrier screening: https://t.co/1TomOyXzvD
#Diagnostics #Genetics #StructuralVariants #PacBio #MyriadGenetics #PrenatalScreening
Excellent panel on #longread DNA Seq & integration of #structuralvariants data & #methylation to expedite identification of actionable & targetable signals for multiple diseases. Drs Hanlee ji Gordon Sanghera Barrett Bradly & Kathleen Barnes. How to implement in #TOPMed #PMWC26
Kicking off #FOG2026 Great keynote fm Dame Sue Hill calling out the importance of incl patients/patient groups in our future for genomics 🧬
> 8,000 delegates and our piece on r(20) has made it into the programme
#ringchromosomes #structuralvariants #RareDisease
Join our CEO 28 Jan @12pm Live Lounge to hear 'The Chromosomes that NGS forgot…” Let's talk about structural variants/ring chromosomes and patient advocacy in rare disease
Sneak peek: https://t.co/LFeEsoxX8S
#FOG2026 #genomics #chromsomes #structuralvariants #ringchromsomes #r20
🧬 Structural Variants in Severe COVID-19: Clinical Impact Assessment
👤by Johanna Kämpe et al.
🔗 Read the article: https://t.co/0m87SZxXnv
#COVID #Genomics #StructuralVariants #ClinicalResearch
@myriadgenetics @PacBio Attendees will see how their computational workflow leverages PacBio PureTarget long-read sequencing assay to resolve difficult genetic structural variations and improve the accuracy of Myriad’s Foresight® Carrier Screen.
#StructuralVariants #PacBio #MyriadGenetics
Wonderful to see @oxfordnanopore highlighting our paper on the role of #structuralvariants in aetiology of #autism in India!
Ours is the first group from the country to utilise ONT's long read whole genome sequencing coupled with in-house @nvidia GPU accelerated SV detection pipeline for understanding their role in ASD pathogenesis.
Oxford Nanopore link: https://t.co/qRQy2c9Bdo
Link to the original paper: https://t.co/RDzqO73eJq
#autism #ASD #LRseq #CNV #SV #FRIGE #FRIGEskunkworks @shramdas @gsbtm
“January 1, 2026: the day OGM stops being ‘future tech’ and becomes standard of care. BNGO’s moment starts now.” #bngo #ogm #bionano #structuralvariants
New Review published from Diagnostics division headed by Dr. Ashwin Dalal, on the utility of Long-Read Genome Sequencing technology in Health and Disease.
Read the review here: https://t.co/liqZCMgbS8
@DBTIndia @BricDbt
#structuralvariants #raregeneticdisorders
Structural variants don't wait for outdated workflows—and neither should you.
Explore the new OhmX VOLT™ Whole Genome Kit. Built for researchers who need unbiased, genome-wide SV detection—fast.
👉 https://t.co/5jvP3mTYKE
#Genomics #StructuralVariants #GenomeMapping
Join us at Advanced Therapies USA 2025, where Ruud Hulspas, Ph.D., Technical Director of Process Development at Dana-Farber Cancer Institute, will present new EGM data.
📅 Nov 18, 2025 | 11:30 AM ET
📍 Track 8, 121 C
#AdvancedTherapiesUSA #Genomics #EGM #StructuralVariants
OctopuSV and TentacleSV: a one-stop toolkit for multi-sample, cross-platform structural variant comparison and analysis. #StructuralVariants #SVs #SVcomparison #SVidentification #Bioinformatics
https://t.co/HR6PNfAJyI
Svirlpool: structural variant detection from long read sequencing by local assembly. #LongRead #Sequencing #LRS #StructuralVariants #SVs @biorxivpreprint
https://t.co/PfUUObHeXU
Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @NatureComms
https://t.co/G8pVQD6rLg
Pre-phasing long reads improves structural variant genotyping. #LongReads #Sequencing #ReadsPhasing #StructuralVariants #Genotyping #Genomics #Bioinformatics
https://t.co/5DVdWnTc0d
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