#structuralvariants
LightNews LightNews
strivestn.bsky.social
Looking forward to the first meeting of our special topic network (STN by @eseb.bsky.social ) in Portugal next week!!
#Evolution
#StructuralVariants
tibe-strive.bsky.social tibe.strive @tibe-strive.bsky.social · Jun 27
🧬 TiBE STRIVE 2026

📍 Vila do Conde, Portugal
📅 8–10 July 2026

A conference on trends in biodiversity and evolution, with a focus on the evolutionary role of structural genomic variation.

@eseb.bsky.social
@strivestn.bsky.social
June 29, 2026 at 7:09 AM
jsantoyo.bsky.social
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics
bmcgenomics.biomedcentral.com/articles/10....
October 12, 2025 at 8:31 AM
strivestn.bsky.social
🧬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
Structural Variants ESEB Special Topic Network
ESEB Special Topic Network
structuralvariantsstn.github.io
February 20, 2026 at 11:49 AM
jsantoyo.bsky.social
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics
academic.oup.com/bioinformati...
June 11, 2025 at 10:31 AM
jsantoyo.bsky.social
Pre-phasing long reads improves structural variant genotyping. #LongReads #Sequencing #ReadsPhasing #StructuralVariants #Genotyping #Genomics #Bioinformatics
academic.oup.com/bioinformati...
October 25, 2025 at 7:32 AM
mspielmann.bsky.social
🚀 Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! 🧬🔀
Out now in Nature Reviews Genetics: www.nature.com/articles/s41...
#3D-Genome #StructuralVariants #uksh
Structural variants in the 3D genome as drivers of disease - Nature Reviews Genetics
Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical consequences of position effects ...
www.nature.com
July 7, 2025 at 11:12 AM
clairemerot.bsky.social
Looking forward to the first meeting of our special topic network (STN by @eseb.bsky.social ) in Portugal next week!!

#Evolution #StructuralVariants @strivestn.bsky.social
tibe-strive.bsky.social tibe.strive @tibe-strive.bsky.social · Jun 27
🧬 TiBE STRIVE 2026

📍 Vila do Conde, Portugal
📅 8–10 July 2026

A conference on trends in biodiversity and evolution, with a focus on the evolutionary role of structural genomic variation.

@eseb.bsky.social
@strivestn.bsky.social
June 29, 2026 at 5:52 AM
jsantoyo.bsky.social
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...
October 19, 2025 at 7:32 AM
jsantoyo.bsky.social
Telomere-to-telomere African wild rice (Oryza longistaminata) reference genome reveals segmental and structural variation. #T2T #WildRiceGenome #ReferenceGenome #StructuralVariants @gigascience.bsky.social
academic.oup.com/gigascience/...
September 1, 2025 at 8:31 AM
jsantoyo.bsky.social
Accurate, scalable structural variant genotyping in complex genomes at population scales. #VariantGenotyping #StructuralVariants #PopulationScale #Genomics #Bioinformatics @molbioevol.bsky.social 🧬 🖥️
academic.oup.com/mbe/advance-...
August 10, 2025 at 7:32 AM
jsantoyo.bsky.social
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. #LongReadSequencing #Genomics #StructuralVariants 🧬 🖥️
www.cell.com/ajhg/abstrac...
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
Genomic rearrangements in repetitive regions have long eluded sequence-based characterization by standard genomic methods. We leveraged long-read sequencing to resolve the architecture of ring chromos...
www.cell.com
November 17, 2024 at 11:48 AM
jsantoyo.bsky.social
Integrative genotyping and analysis of canine structural variation using long-read and short-read data. #DogGenetics #StructuralVariants #LongRead #SequenceData @genomebiolevol.bsky.social
academic.oup.com/gbe/advance-...
September 22, 2025 at 5:05 PM
jsantoyo.bsky.social
FocalSV: target region-based structural variant assembly and refinement using single-molecule long read sequencing data. #StructuralVariants #TargetedRegionAssembly #Bioinformatics #Genomics @biorxivpreprint.bsky.social 🧬 🖥️
www.biorxiv.org/content/10.1...
Source: https://www.biorxiv.org/content/10.1101/2024.11.21.624735v1.full Schematic diagram of the FocalSV large indel detection pipeline
December 2, 2024 at 10:47 PM
ergabiodiv.bsky.social
To learn more about this useful tool, watch a live demo during the #ERGA #BioGenome Analysis & Applications Seminar last November:
▶️ youtube.com/live/Nve8LGJ...

#Biodiversity #genomics #structuralvariants #science #seminar
@irbio-ub.bsky.social @bsc-cns.bsky.social
PerSVade: personalized structural variant detection in any species of interest
YouTube video by ERGA - European Reference Genome Atlas
youtube.com
February 19, 2025 at 9:02 AM
ergabiodiv.bsky.social
#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
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.…
onlinelibrary.wiley.com
February 11, 2026 at 9:01 AM
narjournal.bsky.social
⭐ #NARBreakthrough ⭐
New study delivers the first chromosome-level phased assemblies, uncovering >50,000 #structuralvariants and rescuing millions of #unmappable reads in BJ and IMR-90 human cell lines. 📖 Read here: doi.org/10.1093/nar/... #Genomics #CellLines #CommunityResource
April 29, 2026 at 3:48 PM
jsantoyo.bsky.social
Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @natrevgenet.nature.com
www.nature.com/articles/s41...
Structural variants in the 3D genome as drivers of disease - Nature Reviews Genetics
Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical consequences of position effects…
www.nature.com
July 3, 2025 at 8:31 AM
jsantoyo.bsky.social
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes. #LongRead #Sequencing #Cancer #StructuralVariants #Haplotype #Methylation #Genomics #Bioinformatics #BioSky #SciSky 🧪🧬🖥️
www.cell.com/cell-genomic...
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
We present a resource dataset of 189 long-read-sequenced tumors from advanced cancer patients. Long-read sequencing allows detection of a range of features not easily detectable with more conventional...
www.cell.com
November 16, 2024 at 5:42 PM
jsantoyo.bsky.social
cuteFC: regenotyping structural variants through an accurate and efficient force-calling method. #LongReads #StructuralVariants #Genomics #Bioinformatics #GenomeBiology 🧬 🖥️
genomebiology.biomedcentral.com/articles/10....
June 25, 2025 at 11:15 AM
bric-cdfd.bsky.social
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
December 12, 2025 at 5:40 AM
jsantoyo.bsky.social
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...
November 8, 2025 at 9:31 AM
jsantoyo.bsky.social
Pangenomic structural variant patterns reflect evolutionary diversification in Brassica napus. #StructuralVariants #Pangenomes #BrasicaNapusGenome #PlantGenomics #Bioinformatics #GenomeBiology 🧪🧬 🖥️
link.springer.com/article/10.1...
December 5, 2025 at 9:31 AM
jsantoyo.bsky.social
The value of structural variants to conservation genomics in the pangenome era. #StructuralVariants #SVs #Bioinformatics #Genomics #ConservationGenomics #Pangenomes #JournalOfHeredity
academic.oup.com/jhered/advan...
December 2, 2025 at 6:05 PM
jsantoyo.bsky.social
insilicoSV: a flexible grammar-based framework for structural variant simulation and placement. #StructuralVariants #SVs #SVsimulation #SimulatedData #Genomics #Bioinformatics 🧪🧬 🖥️
academic.oup.com/bioinformati...
November 9, 2025 at 8:05 PM
jsantoyo.bsky.social
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...
October 27, 2025 at 2:49 PM