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...
www.nature.com/articles/s41...
October 27, 2025 at 2:49 PM
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Pre-phasing long reads improves structural variant genotyping. #LongReads #Sequencing #ReadsPhasing #StructuralVariants #Genotyping #Genomics #Bioinformatics
academic.oup.com/bioinformati...
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October 25, 2025 at 7:32 AM
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Constellation illuminates rare disease genetics. #Illumina #Constellation #ShortRead #LongRangePhasing #StructuralVariants #Sequencing #RareDiseases @medrxivpreprint.bsky.social
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
October 21, 2025 at 3:54 PM
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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...
www.nature.com/articles/s41...
October 19, 2025 at 7:32 AM
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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
Watch now: https://bit.ly/41ABgF2
#LongReadSequencing #Genomics #StructuralVariants #ResearchInnovation #GenomicsInsights
October 15, 2025 at 7:05 AM
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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
Read the study here: bit.ly/4ocq49K
#PacBio
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...
bit.ly
October 7, 2025 at 7:00 PM
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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/...
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October 6, 2025 at 2:31 PM
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How structural variation shapes the cancer epigenome. #CancerEpigenome #StructuralVariants @cp-trendscancer.bsky.social
www.cell.com/trends/cance...
www.cell.com/trends/cance...
How structural variation shapes the cancer epigenome
It is widely recognized that cancer develops through a series of changes that modify the genomes of normal cells, enabling them to acquire new malignant properties. Epigenetic disruptions, which do…
www.cell.com
October 2, 2025 at 4:32 PM
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Integrative genotyping and analysis of canine structural variation using long-read and short-read data. #DogGenetics #StructuralVariants #LongRead #SequenceData @genomebiolevol.bsky.social
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September 22, 2025 at 5:05 PM
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A comprehensive water buffalo pangenome reveals extensive structural variation linked to population-specific signatures of selection. #BuffaloPangenome #StructuralVariants #Genomics #Bioinformatics @gigascience.bsky.social @roslininstitute.bsky.social
academic.oup.com/gigascience/...
academic.oup.com/gigascience/...
A comprehensive water buffalo pangenome reveals extensive structural variation linked to population-specific signatures of selection
AbstractBackground. Water buffalo is a cornerstone livestock species in many low- and middle-income countries, yet major gaps persist in its genomic charac
academic.oup.com
September 22, 2025 at 4:32 PM
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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/...
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September 1, 2025 at 8:31 AM
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Structural variants are enriched in deleterious visible phenotypes in Drosophila
Ahmad, A., Ali, M. et al.
Paper
Details
#DrosophilaGenetics #StructuralVariants #DeleteriousPhenotypes
Ahmad, A., Ali, M. et al.
Paper
Details
#DrosophilaGenetics #StructuralVariants #DeleteriousPhenotypes
August 26, 2025 at 4:03 PM
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Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis. #HMW #DNAextraction #LongRead #Sequencing #StructuralVariants #BMCgenomics 🧬
bmcgenomics.biomedcentral.com/articles/10....
bmcgenomics.biomedcentral.com/articles/10....
August 12, 2025 at 10:30 AM
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Accurate, scalable structural variant genotyping in complex genomes at population scales. #VariantGenotyping #StructuralVariants #PopulationScale #Genomics #Bioinformatics @molbioevol.bsky.social 🧬 🖥️
academic.oup.com/mbe/advance-...
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August 10, 2025 at 7:32 AM
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The Tiling Algorithm - A general method for structural characterization of accurate long DNA sequence reads: application to AAV genome sequences. #StructuralVariants #LongRead #DNAsequencing #AAV #Genomics #Bioinformatics @biorxiv-bioinfo.bsky.social 🧬 🖥️
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
August 1, 2025 at 8:31 AM
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🚀 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
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
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Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @natrevgenet.nature.com
www.nature.com/articles/s41...
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
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cuteFC: regenotyping structural variants through an accurate and efficient force-calling method. #LongReads #StructuralVariants #Genomics #Bioinformatics #GenomeBiology 🧬 🖥️
genomebiology.biomedcentral.com/articles/10....
genomebiology.biomedcentral.com/articles/10....
June 25, 2025 at 11:15 AM
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SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics
academic.oup.com/bioinformati...
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June 11, 2025 at 10:31 AM
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SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing. #StructuralVariants #CopyNumberVariations #LongRead #Sequencing #Genomics #Bioinformatics @natmethods.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing - Nature Methods
SAVANA is a tool to detect somatic structural variants and copy number aberrations using long-read sequencing data, offering high sensitivity, specificity and compatibility with or without germline…
www.nature.com
June 3, 2025 at 4:32 PM
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Transposable elements and heterochromatic regions are enriched for structural variation and sequence divergence in the genome of wild-type Caenorhabditis elegans. #TransposableElements #StructuralVariants #HeterochromatinVariants #GenomeDivergence #Celegans #G3
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June 2, 2025 at 3:03 PM
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🧬 Let’s talk structural variants!
🚨 TOMORROW, June 3rd — Webinar:
Uncover the Hidden Genome: SV Detection with Dovetail® LinkPrep!
🕙 10AM SGT | 12PM AEST
💡 One assay. Every variant—SVs, SNVs, InDels & CNVs
🔗 Register now: edenrocsciences.zoom...
#StructuralVariants #LinkPrep
🚨 TOMORROW, June 3rd — Webinar:
Uncover the Hidden Genome: SV Detection with Dovetail® LinkPrep!
🕙 10AM SGT | 12PM AEST
💡 One assay. Every variant—SVs, SNVs, InDels & CNVs
🔗 Register now: edenrocsciences.zoom...
#StructuralVariants #LinkPrep
June 2, 2025 at 2:00 AM
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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
▶️ 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
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Benchmarking, detection, and genotyping of structural variants in a population of whole-genome assemblies using the SVGAP pipeline. #StructuralVariants #GenomeAssembly #Bioinformatics #Genomics @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Benchmarking, detection, and genotyping of structural variants in a population of whole-genome assemblies using the SVGAP pipeline
Comparisons of complete genome assemblies offer a direct procedure for characterizing all genetic differences among them. However, existing tools are often limited to specifi c aligners or optimized f...
www.biorxiv.org
February 8, 2025 at 6:07 PM
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Learn from our experts in long-read sequencing with our on-demand webinar: "Maximizing Genomic Insights." Explore how our advanced sequencing reveals complex genetic regions.
Watch now: bit.ly/41ABgF2
#LongReadSequencing #Genomics #StructuralVariants #ResearchInnovation #GenomicsInsights
Watch now: bit.ly/41ABgF2
#LongReadSequencing #Genomics #StructuralVariants #ResearchInnovation #GenomicsInsights
January 6, 2025 at 8:33 AM
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1 reposts