Javier Santoyo
@jsantoyo
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Genomics & Bioinformatics Scientist at @EdinburghUni. Head of @edgenome | #Omics #NGS #LongReads | Views my own | Also @ https://t.co/TCJKasgyMt
Edinburgh
Joined May 2011
A fuzzy sequencer for rapid DNA fragment counting and genotyping. #DNAsequencing #FuzzySequencer #Genomics @natBME .
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GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection. #DataSimulation #SequenceData #LowFrequencyMutations #Bioinformatics #Genomics @SciReports .
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’We couldn’t live without it’: the UCSC Genome Browser turns 25. #UCSC #GenomeBrowseer #Bioinformatics #Genomics #TechnologyFeatures @Nature.
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High-resolution detection of copy number alterations in single cells with HiScanner. #CNV #CopyNumberAlterations #SingleCells #Genomics #Bioinformatics @NatureComms .
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scICE: enhancing clustering reliability and efficiency of scRNA-seq data with multi-cluster label consistency evaluation. #SingleCell #scRNAseq #ClusterEvaluation #Genomics #Bioinformatics @NatureComms .
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Cell-type deconvolution methods for spatial transcriptomics. #SpatialTranscriptomics #CellTypeDeconvolution #Bioinformatics #Genomics @NatureRevGenet .
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Methodological opportunities in genomic data analysis to advance health equity. #GenomicData #DataAnalysis #HealthEquity #Genomics #Bioinformatics @NatureRevGenet .
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Structural variants in the 3D genome as drivers of disease. #StructuralVariants #3Dgenome #Genomics @NatureRevGenet .
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The human transcription factor occupancy landscape viewed using high-resolution in situ base-conversion strand-specific single-molecule chromatin accessibility mapping. #TranscriptionFactors #TFs #Genomics @biorxivpreprint.
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Transcriptional and post-transcriptional regulation of transposable elements and their roles in development and disease. #TEs #TransposableElements @NatRevMCB .
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Chromosome-level genome assembly of Pinus massoniana provides insights into conifer adaptive evolution. #MassonPineGenome #ConiferGenetics #Genomics @GigaScience.
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Genomic Touchstone: Benchmarking Genomic Language Models in the Context of the Central Dogma.#gLMs #LanguageModels #Genomics #Bioinformatics #DNA #RNA @biorxivpreprint.
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A Systematic Benchmark of High-Accuracy PacBio Long-Read RNA Sequencing for Transcript-Level Quantification. #HiFi #LongReads #Sequencing #Transcriptomics @PacBio @biorxivpreprint.
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Cleanifier: A fast and lightweight k-mer based tool to remove contamination in microbial sequence data. #MicrobialSequences #ContaminationRemoval #Kmers #Genomics #Bioinformatics @biorxivpreprint.
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RT @erga_biodiv: 📢 It’s time to harmonise practices for assessing genome-wide genetic diversity 🧬 Standardisation is key to meet the needs….
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Trypanosoma cruzi Has 32 Chromosomes: A Telomere-to-Telomere Assembly Defines Its Karyotype. #TrypanosomaCruziGenome #ChromosomeLevelAssembly Genomics @biorxivpreprint.
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Super-giga and tiny orchid genomes illuminate evolution of Orchidaceae. #OrchidGenomes #Genomics @biorxiv_genomic .
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MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes. #GeneticImputation #LowCoverage #Sequencing #Genomics #Bioinformatics @biorxiv_genomic .
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