#structuralvariants 搜尋結果
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…
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…
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…
How structural variation shapes the cancer epigenome. #CancerEpigenome #StructuralVariants @trendscancer cell.com/trends/cancer/…
cell.com
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...
Up now @ArimaGenomics talking about #3Dgenome and #StructuralVariants in cancer @CeiFccc #CEI2023Symp Thanks, Anthony!
"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
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
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…
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
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…
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…
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…
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics academic.oup.com/bioinformatics…
Structural variants (SVs) shape genetic diversity in tea plants. Our large-scale SV map reveals insights into tea quality, stress resistance, breeding, and evolution. Exciting prospects for tea plant improvement! #StructuralVariants #TeaPlants #Genomics maxapress.com/article/doi/10…
Revolutionizing hematological #malignancyresearch with @bionano Optical Genome Mapping! 🌐🩸 Unlocking the secrets of #structuralvariants, our genome-wide platform provides digital precision and unbiased insights. Transforming the landscape of diagnostics.
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/…
cell.com
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...
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…
Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @NatureComms nature.com/articles/s4146…
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…
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…
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
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
Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres. #MouseGenomes #StructuralVariants #TsT #Centromeres #Genomics @NatureGenet nature.com/articles/s4158…
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…
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
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
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…
Up now @ArimaGenomics talking about #3Dgenome and #StructuralVariants in cancer @CeiFccc #CEI2023Symp Thanks, Anthony!
Want to learn how #DTG can find #structuralvariants you’ve been missing? Come see us @AACR booth 4107
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
"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
Today @martinsg_15 got the first #circos plot showing #StructuralVariants of cockle transmissible cancers! @ERC_Research @UniversidadeUSC @cimususc #research #scubacancers
@ekta_khurana et al. develop CSVDriver, a method that identifies breakpoint proximity of #StructuralVariants in cancer, the contribution of #TADs, loci under #PositiveSelection, and putative #CancerDrivers #CancerResearch @natrescancer go.nature.com/3RmN70Q
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