Posts with #StructuralVariants

#StructuralVariants

Public posts on X that use #StructuralVariants.

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Physalia-courses@ONLINE@Physacourses2y
Don't miss our upcoming course this December with the brilliant @sedlazeck & @lfpaulin! 🧬✨ 🚨 Spots are almost gone, so grab yours before it's too late! 🔥 #Genomics #StructuralVariants #Bioinformatics
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1311938
Javier Santoyo@jsantoyo1y
Accurate, scalable structural variant genotyping in complex genomes at population scales. #VariantGenotyping #StructuralVariants #PopulationScale #Genomics #Bioinformatics @MolBioEvol
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010464.4K
Javier Santoyo@jsantoyo1y
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics
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1321054.9K
Manolis Kellis✓@manoliskellis6y
High-altitude adaptation #StructuralVariants signals in #SingleMolecule @nanopore sequencing between 119 #Tibetan and 201 #HanChinese samples reveals cis/trans rewiring of #hypoxia, #energy, #lung pathways, expanding #GWAS. #SVs #InDels #SNPs #LongReads
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245218
Javier Santoyo@jsantoyo1y
Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @NatureRevGenet
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018896.4K
Javier Santoyo@jsantoyo3y
A graph clustering algorithm for detection and genotyping of structural variants from long reads. #GraphClustering #StructuralVariants #LongReads @GigaScience
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217906.3K
Javier Santoyo@jsantoyo1y
OctopuSV and TentacleSV: a one-stop toolkit for multi-sample, cross-platform structural variant comparison and analysis. #StructuralVariants #SVs #SVcomparison #SVidentification #Bioinformatics
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110261.7K
Neural Cell News✓@NeuralCell2w
💡Scientists from @hkust established the common FAM193B-CCG repeat as an Alzheimer’s disease (AD) risk genetic factor and highlight the contribution of common #StructuralVariants to AD #heritability. @NatureNeuro |
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013219
Genetics in Medicine@GIMJournal4y
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
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016433.5K
BRIC - CDFD@BRIC_CDFD11mo
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: @DBTIndia @BricDbt #structuralvariants #raregeneticdisorders
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005169
Javier Santoyo@jsantoyo2y
FindCSV: a long-read based method for detecting complex structural variations. #StructuralVariants #LongReads #DeepLearning #VariantCalling @BMCBioinfo
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110322.6K
Javier Santoyo@jsantoyo2y
VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing. #StructuralVariants #VariantCalling #LongReads #Sequencing
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015482.8K
Javier Santoyo@jsantoyo1y
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. #StructuralVariants #SVs #Visualization #WholeGenome #Assemblies #Bioinformmatics
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0210541
Aïcha Boughalem@chalem22y
Rendez-vous à ne pas manquer avec l'imminente @KorneliaNeveling et co #StructuralVariants #OpticalGenomeMapping
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Samba Scientific @sambasci
Optical genome mapping enables detection and identification of structural variations associated with complex disease. Learn more about sample preparation and overall workflow in our free webinar October 23rd at 11:00 AM ET: #genomics #DNAExtraction
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Samba Scientific@sambasci2y
Optical genome mapping enables detection and identification of structural variations associated with complex disease. Learn more about sample preparation and overall workflow in our free webinar October 23rd at 11:00 AM ET: #genomics #DNAExtraction
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13101.8K
Javier Santoyo@jsantoyo1y
Integrative genotyping and analysis of canine structural variation using long-read and short-read data. #DogGenetics #StructuralVariants #LongRead #SequenceData @GenomeBiolEvol
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0412525
Javier Santoyo@jsantoyo5y
A framework to score the effects of structural variants in health and disease. #StructuralVariants #SVs #VariantEffectPrediction @genomeresearch
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011
Kira Delmore@kedelmore3y
TWO FULLY FUNDED POSTDOC POSITIONS AVAILABLE. We're looking for people to help us work on #Epigenetics, #StructuralVariants, #Speciation, #Hybridization and #Migration! Click here: #postdoc #jobopening #genomics #bioinformatics
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210113043.2K
Javier Santoyo@jsantoyo1y
insilicoSV: a flexible grammar-based framework for structural variant simulation and placement. #StructuralVariants #SVs #SVsimulation #SimulatedData #Genomics #Bioinformatics
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16251.7K
Mol Syst Biol@MolSystBiol3y
A diallel hybrid panel from diverse parental natural yeast isolates is used to investigate the effects of low- frequency #singlenucleotidepolymorphisms & #structuralvariants on gene expression variation in a population ➡️ @jo_schacherer #geneticvariation
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0412888
Javier Santoyo@jsantoyo1y
Complex de novo structural variants are an underestimated cause of rare disorders. #StructuralVariants #DeNovoSVs #RareDiseases #VariantsUnderstimation #Genomics #Bioinformatics @NatureComms
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013422.6K
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