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.

This week: representatives from Myriad Genetics & @pacbio.bsky.social demonstrate how their long-read sequencing approach successfully improves prenatal carrier screening: event.on24.com/wcc/r/525686...

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

Using the linear references from the pangenome to discover missing autism variants - Nature Communications Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Long‑read, phased genomes from 189 individuals reveal autism‑associated pathogenic variants, including complex SVs missed by short reads. Highlights variants in TBL1XR1, MECP2 & SYNGAP1. @uwgenome.bsky.social @humanpangenome.bsky.social #LongReadSequencing #StructuralVariants #AutismResearch

Original post on fediscience.org

Join our research team as a Data Scientist III and help us integrate LC-MS-based comprehensive lipidomic profiling, genomic variation (including structural variation), & clinical phenotypes in more than 4,000 Samoan adults from Samoa and American Samoa.

#Genetics #Lipidomics #StructuralVariants […]

Original post on fediscience.org

Join our research team as a Post Doctoral Associate and help us integrate LC-MS-based comprehensive lipidomic profiling, genomic variation (including structural variation), & clinical phenotypes in more than 4,000 Samoan adults from Samoa and American Samoa.

#Genetics #Lipidomics […]

Data Scientist III Click the link provided to see the complete job description.

Come join our team & help us integrate LC-MS-based lipidomic profiling, genome-wide genotype data, structural genetic variation data, and clinical phenotypes in more than 4,000 Samoan adults from Samoa and American Samoa.

#genetics #lipidomics #StructuralVariants

cfopitt.taleo.net/careersectio...

GW: ultra-fast chromosome-scale visualization of genomics data - Nature Methods Nature Methods - GW: ultra-fast chromosome-scale visualization of genomics data

🧬 GW — a new ultra-fast genome browser for chromosome-scale visualisation in @natmethods.nature.com
Unlike IGV, it handles megabase-scale regions with ease.
SV analysis with long-read sequencing! 🔬
nature.com/articles/s41592-025-02749-5
#Genomics #Nanopore #StructuralVariants

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

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

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

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

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

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

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

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

Pangenomic structural variant patterns reflect evolutionary diversification in Brassica napus. #StructuralVariants #Pangenomes #BrasicaNapusGenome #PlantGenomics #Bioinformatics #GenomeBiology 🧪🧬 🖥️
link.springer.com/article/10.1...

The value of structural variants to conservation genomics in the pangenome era. #StructuralVariants #SVs #Bioinformatics #Genomics #ConservationGenomics #Pangenomes #JournalOfHeredity
academic.oup.com/jhered/advan...

🧬 New poster alert!
Discover how Dovetail® LinkPrep™ tech + Dovetail Precise enable 90% recall of somatic structural variants with base-pair precision — detecting deletions, duplications, inversions & translocations in a single assay.
📄 ow.ly/qaWf50XwvG7
#StructuralVariants #CancerGenomics

Most courses in December are now fully booked or have only a few seats remaining.

If you or your colleagues were planning to register, please secure your spot right away!

www.physalia-courses.org/courses-work...

#Phylogenomics #StructuralVariants #GAMs #Rstats #Genviz #MultiOmics #Bioinformatics

OctopuSV and TentacleSV: a one-stop toolkit for multi-sample, cross-platform structural variant comparison and analysis. #StructuralVariants #SVs #SVcomparison #SVidentification #Bioinformatics 🧪🧬 🖥️
academic.oup.com/bioinformati...

Join us in beautiful #Heidelberg to discover the most precise method for detecting all Structural Variants in a single reaction. We look forward to seeing you there!
#StructuralVariants #EnhancerHijacking #HiC #LinkPrep #SVs #EMBLCanGen

insilicoSV: a flexible grammar-based framework for structural variant simulation and placement. #StructuralVariants #SVs #SVsimulation #SimulatedData #Genomics #Bioinformatics 🧪🧬 🖥️
academic.oup.com/bioinformati...

Svirlpool: structural variant detection from long read sequencing by local assembly. #LongRead #Sequencing #LRS #StructuralVariants #SVs @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...

Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @natcomms.nature.com 🧪🧬 🖥️
www.nature.com/articles/s41...

Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres. #MouseGenomes #StructuralVariants #TsT #Centromeres #Genomics @natgenet.nature.com
www.nature.com/articles/s41...

Pre-phasing long reads improves structural variant genotyping. #LongReads #Sequencing #ReadsPhasing #StructuralVariants #Genotyping #Genomics #Bioinformatics
academic.oup.com/bioinformati...

Constellation illuminates rare disease genetics. #Illumina #Constellation #ShortRead #LongRangePhasing #StructuralVariants #Sequencing #RareDiseases @medrxivpreprint.bsky.social
www.medrxiv.org/content/10.1...

From genotype to phenotype with 1,086 near telomere-to-telomere yeast genomes. #YeastGenomes #Pangenomes #GeneticVariation #StructuralVariants #LongRead #Sequencing @nature.com 🧬 🖥️
www.nature.com/articles/s41...

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

Population-scale Long-read Sequencing in the All of Us Research Program The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-geno...

In a landmark #PopulationGenomics study, All of Us researchers used #HiFisequencing of 1,027 participants to identify hundreds of #StructuralVariants disease associations, with over half missed by short reads. What are you missing in your research?

Read the study here: bit.ly/4ocq49K

#PacBio

The Great Genotyper: a graph-based method for population genotyping of small and structural variants. #GeneticVariants #StructuralVariants #GenomeGraphs #PopulationGenomics #Genotyping @gigascience.bsky.social 🧪 🧬 🖥️
academic.oup.com/gigascience/...