#structuralvariants

@dnanexus.bsky.social

1 week ago

Live webinar: March 27th at 8 AM PT | 11 AM ET. "Resolving Challenging Genetic Variants in Carrier Screening Using Long-Read Technology." Speakers: Theresa Wohlever Customer Success Manager DNAnexus, Jack Roach Computational Scientist Myriad Genetics, Sam Pearlman Senior Software Engineer Myriad Genetics, Deborah Moine Senior Product Manager PacBio, Tom Mokveld Bioinformatics Scientist PacBio.

Learn how long-read sequencing assays are being deployed to improve prenatal carrier screening: event.on24.com/wcc/r/525686...

#Diagnostics #Genetics #StructuralVariants #PacBio #MyriadGenetics #PrenatalScreening

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STRIVE

@strivestn.bsky.social

3 weeks ago

Structural Variants ESEB Special Topic Network ESEB Special Topic Network

🧬We are launching STRiVE, a @eseb.bsky.social Special Topic Network on the evolutionary role of structural genomic variation.

🗓️Std:
29/04: Online seminar w/ L. Rieseberg
8-10/07: Kick-off in Porto

Join us: structuralvariantsstn.github.io #Evolution #Genomics #StructuralVariants #Biology #PopGen

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ERGA - European Reference Genome Atlas

@ergabiodiv.bsky.social

1 month ago

A Beginner's Guide to Structural Variants in Eco‐Evolutionary Population Genomics Whole-genome sequencing (WGS) has greatly expanded researchers' ability to study structural variants (SVs), that is, the variation in the presence, number, orientation or position of a DNA sequence.…

#ERGAReads | A Beginner's Guide to Structural Variants in Eco-Evolutionary Population Genomics 🧬
🔗 onlinelibrary.wiley.com/doi/10.1111/...
#MolecularEcology #structuralvariants #genomics #PopulationGenomics @rebekahoomen.bsky.social @clairemerot.bsky.social

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Miles Collier

@milescollier.bsky.social

1 month ago

I'll be at #FoG2026 in London, for @dtgenomics.bsky.social . I look forward to seeing many familiar faces there and hope to meet some new ones. Let me know if you are attending and would like to catch up?
#3DGenomics #Epigenomics #StructuralVariants

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DNAnexus, Inc.

@dnanexus.bsky.social

2 months ago

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

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Novogene Europe

@novogene-europe.bsky.social

2 months ago

Learn from experts in long-read sequencing with our on-demand webinar: "Maximizing Genomic Insights." Explore how advanced sequencing reveals complex genetic regions.

Watch now: https://bit.ly/41ABgF2

#LongReadSequencing #Genomics #StructuralVariants #ResearchInnovation #GenomicsInsights

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BRIC - CDFD

@bric-cdfd.bsky.social

3 months ago

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: karger.com/cgr/article-...

@kargerpublishers.bsky.social
#structuralvariants #raregeneticdisorders

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MRC Weatherall Institute of Molecular Medicine

@imm.ox.ac.uk

3 months ago

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications - Genome Medicine Genome Medicine - Determining the correct structure of large, interspersed duplications and related complex genomic rearrangements in genetic disease is critical when establishing causal roles and...

#WIMMReads: Led by Andrew Wilkie and Stephen Twigg, this study shows how optical genome mapping can help reveal the true structure of complex DNA duplications in genetic disease. 🧪

#Genomics #GeneticDiagnosis #StructuralVariants

@rdm.ox.ac.uk @medsci.ox.ac.uk

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Posts tagged #structuralvariants