#structuralvariants résultats de recherche
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics bmcgenomics.biomedcentral.com/articles/10.11…
Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @NatureComms nature.com/articles/s4146…
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/bioinformatics…
Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres. #MouseGenomes #StructuralVariants #TsT #Centromeres #Genomics @NatureGenet nature.com/articles/s4158…
insilicoSV: a flexible grammar-based framework for structural variant simulation and placement. #StructuralVariants #SVs #SVsimulation #SimulatedData #Genomics #Bioinformatics academic.oup.com/bioinformatics…
Integrative genotyping and analysis of canine structural variation using long-read and short-read data. #DogGenetics #StructuralVariants #LongRead #SequenceData @GenomeBiolEvol academic.oup.com/gbe/advance-ar…
The Great Genotyper: a graph-based method for population genotyping of small and structural variants. #GeneticVariants #StructuralVariants #GenomeGraphs #PopulationGenomics #Genotyping @gigascience academic.oup.com/gigascience/ar…
Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @NatureRevGenet nature.com/articles/s4157…
"Optical genome mapping provides better resolution down to the exon/ intronic level of genes to elucidate more accurate breakpoints in structural variants." - Brian Cole $BNGO #OGM #StructuralVariants
How structural variation shapes the cancer epigenome. #CancerEpigenome #StructuralVariants @trendscancer cell.com/trends/cancer/…
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics academic.oup.com/bioinformatics…
Up now @ArimaGenomics talking about #3Dgenome and #StructuralVariants in cancer @CeiFccc #CEI2023Symp Thanks, Anthony!
Optical genome mapping improves structural variant detection in genetically unexplained cases of inherited retinal disease and shows that the contribution of pathogenic variants is likely underestimated #USH2A #NGS #structuralvariants @SEdeBruijn bit.ly/3QNrwjt
TWO FULLY FUNDED POSTDOC POSITIONS AVAILABLE. We're looking for people to help us work on #Epigenetics, #StructuralVariants, #Speciation, #Hybridization and #Migration! Click here: delmorelab.com/recruitment. #postdoc #jobopening #genomics #bioinformatics
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing. #StructuralVariants #CopyNumberVariations #LongRead #Sequencing #Genomics #Bioinformatics @naturemethods nature.com/articles/s4159…
Accurate, scalable structural variant genotyping in complex genomes at population scales. #VariantGenotyping #StructuralVariants #PopulationScale #Genomics #Bioinformatics @MolBioEvol academic.oup.com/mbe/advance-ar…
We compared 2 #Tillandsia genomes and identified several large scale #StructuralVariants. However, major gene expression differences between #CAM and #C3 #metabolism appeared associated with rapid gene family evolution and #TransposableElement activity. doi.org/10.1101/2023.0…
Transposable elements and heterochromatic regions are enriched for structural variation and sequence divergence in the genome of wild-type Caenorhabditis elegans. #TransposableElements #StructuralVariants #Heterochromatin #GenomeDivergence #Celegans #G3 academic.oup.com/g3journal/adva…
A comprehensive water buffalo pangenome reveals extensive structural variation linked to population-specific signatures of selection. #BuffaloPangenome #StructuralVariants #Genomics #Bioinformatics @GigaScience @edgenome @roslininstitute academic.oup.com/gigascience/ar…
cuteFC: regenotyping structural variants through an accurate and efficient force-calling method. #LongReads #StructuralVariants #Genomics #Bioinformatics @GenomeBiology genomebiology.biomedcentral.com/articles/10.11…
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/bioinformatics…
Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @NatureComms nature.com/articles/s4146…
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics bmcgenomics.biomedcentral.com/articles/10.11…
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's missing in your research? Details.👇M livesocial.seismic.com/tnGQp3
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’s missing in your research? Details.👇 bit.ly/4ocq49K
The Great Genotyper: a graph-based method for population genotyping of small and structural variants. #GeneticVariants #StructuralVariants #GenomeGraphs #PopulationGenomics #Genotyping @gigascience academic.oup.com/gigascience/ar…
How structural variation shapes the cancer epigenome. #CancerEpigenome #StructuralVariants @trendscancer cell.com/trends/cancer/…
Accurate, scalable structural variant genotyping in complex genomes at population scales. #VariantGenotyping #StructuralVariants #PopulationScale #Genomics #Bioinformatics @MolBioEvol academic.oup.com/mbe/advance-ar…
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 biorxiv.org/content/10.110…
Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @NatureRevGenet nature.com/articles/s4157…
cuteFC: regenotyping structural variants through an accurate and efficient force-calling method. #LongReads #StructuralVariants #Genomics #Bioinformatics @GenomeBiology genomebiology.biomedcentral.com/articles/10.11…
#Genotyping #StructuralVariants #MachineLearning #DeepLearning #ShortReads #LongReads #TandemRepeats #ComputationalBiology #Bioinformatics #Pangenome #Genetics
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics academic.oup.com/bioinformatics…
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing. #StructuralVariants #CopyNumberVariations #LongRead #Sequencing #Genomics #Bioinformatics @naturemethods nature.com/articles/s4159…
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics bmcgenomics.biomedcentral.com/articles/10.11…
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/bioinformatics…
Hello @AACR attendees! Come chat with us at booth 4107 about #structuralvariants from #FFPE and enter to win this awesome echo
Integrative genotyping and analysis of canine structural variation using long-read and short-read data. #DogGenetics #StructuralVariants #LongRead #SequenceData @GenomeBiolEvol academic.oup.com/gbe/advance-ar…
Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @NatureComms nature.com/articles/s4146…
Optical genome mapping improves structural variant detection in genetically unexplained cases of inherited retinal disease and shows that the contribution of pathogenic variants is likely underestimated #USH2A #NGS #structuralvariants @SEdeBruijn bit.ly/3QNrwjt
Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @NatureRevGenet nature.com/articles/s4157…
Accurate, scalable structural variant genotyping in complex genomes at population scales. #VariantGenotyping #StructuralVariants #PopulationScale #Genomics #Bioinformatics @MolBioEvol academic.oup.com/mbe/advance-ar…
The Great Genotyper: a graph-based method for population genotyping of small and structural variants. #GeneticVariants #StructuralVariants #GenomeGraphs #PopulationGenomics #Genotyping @gigascience academic.oup.com/gigascience/ar…
Exciting talk by Marcin Imielinsky @skimomiks on the diversity of #StructuralVariants: lots of new Greek terms for new entities. This talk highlights the importance of broader assays, i.e. WGS, to fully elucidate tumor alterations. @EngIPM @WCMCPathology #AMPath19
TWO FULLY FUNDED POSTDOC POSITIONS AVAILABLE. We're looking for people to help us work on #Epigenetics, #StructuralVariants, #Speciation, #Hybridization and #Migration! Click here: delmorelab.com/recruitment. #postdoc #jobopening #genomics #bioinformatics
Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres. #MouseGenomes #StructuralVariants #TsT #Centromeres #Genomics @NatureGenet nature.com/articles/s4158…
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing. #StructuralVariants #CopyNumberVariations #LongRead #Sequencing #Genomics #Bioinformatics @naturemethods nature.com/articles/s4159…
insilicoSV: a flexible grammar-based framework for structural variant simulation and placement. #StructuralVariants #SVs #SVsimulation #SimulatedData #Genomics #Bioinformatics academic.oup.com/bioinformatics…
New from the lab: onlinelibrary.wiley.com/doi/full/10.11… in @molecology From RAD-like data on #lobster, @YannDorant et al identified copy-number variants and found that some #CNVs loci showed fine-scale population structure associated with thermal variance. #StructuralVariants #Environment
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics academic.oup.com/bioinformatics…
"Optical genome mapping provides better resolution down to the exon/ intronic level of genes to elucidate more accurate breakpoints in structural variants." - Brian Cole $BNGO #OGM #StructuralVariants
The Dec issue of @genomeresearch is now live. Follow the link to new research on #mobile element insertions, #structuralvariants and gene expression, and more! ow.ly/33Zq30s2JGl
Want to learn how #DTG can find #structuralvariants you’ve been missing? Come see us @AACR booth 4107
Up now @ArimaGenomics talking about #3Dgenome and #StructuralVariants in cancer @CeiFccc #CEI2023Symp Thanks, Anthony!
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