banner
jsantoyo.bsky.social
Javier Santoyo
@jsantoyo.bsky.social
2.2K followers 2K following 760 posts
Genomics & Bioinformatics Scientist at the University of Edinburgh | Head of Edinburgh Genomics | #Omics #NGS #LongReads 🧬 🖥️ Opinions my own. He/Him Lab: https://genomics.ed.ac.uk/ LinkedIn: https://www.linkedin.com/in/javiersantoyolopez/
genomics.ed.ac.uk
Posts Media Videos Starter Packs
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 2d
Nanopore sequencing and haplotyping of mitochondrial DNA hypervariable regions and its application on mixed stain. #MitochondrialDNA #HypervariableRegions #Nanopore #Sequencing #ForensicDNA #ForensicScienceInternational_Genetics
www.sciencedirect.com/science/arti...
1 1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 2d
Long-read nucleosome mapping of single chromatin fibers using DNA methylation and Nanopore sequencing. #LongRead #Nanopore #Sequencing #Chromatin #DNAmethylation @biophysj.bsky.social 🧪 🧬
www.sciencedirect.com/science/arti...
1 4
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 2d
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/...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 2d
Potential impact of long-read sequencing on complement-mediated diseases. #LongRead #Sequencing #Genomics #ComplementGenes #Immunology @cp-trendsimmuno.bsky.social 🧪 🧬 🖥️
www.sciencedirect.com/science/arti...
www.sciencedirect.com
2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures.#SomaticVariantDetection #HapMap #Pangenomics @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
A recurrent sequencing artifact on Illumina sequencers with two-color fluorescent dye chemistry and its impact on somatic variant detection. #ShortRead #Sequencing #TwoColorSequencing #SomaticVariants @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
1 2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
Analytical Validation of a Pan-Cancer NGS Assay for In-House Liquid Biopsy Testing: An International Multicenter Study. #PanCancerNGS #LiquidBiopsy @jmdiagn.bsky.social
www.jmdjournal.org/article/S152...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
Evaluation of long-read genome sequencing for genomic profiling of myeloid cancers. #LongReads #Sequencing #GenomicProfiling #MyeloidCancers @jmdiagn.bsky.social
www.jmdjournal.org/article/S152...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
A closed-loop method for precise genome size estimation using HiFi reads. #GenomeSize #HiFi #LongReads #Genomics #Bioinformatics #BMCgenomics 🧬 🖥️
bmcgenomics.biomedcentral.com/articles/10....
2 3
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
The complete genome assembly of Astragalus membranaceus: enabling more accurate genetic research. #MongolianMilkvetchGenome #T2T @gigascience.bsky.social 🧬 🖥️
academic.oup.com/gigascience/...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
Introducing the Y-chromosomal Ancestral-like Reference Sequence—Improving the Capture of Human Evolutionary Information. #Ychromosome #EvolutionaryInformation #GeneticVariants #HumanGenome @molbioevol.bsky.social 🧬 🖥️
academic.oup.com/mbe/article/...
1 3
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
JG2: an updated version of the Japanese population-specific reference genome. #HumanGenome #ReferenceGenome #HaploidAssemblies #JapanesePopulation #HumanGenomeVariation 🧬 🖥️
www.nature.com/articles/s41...
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 5d
T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population. #HumanGenome #ReferenceGenome #T2t_CHM13 #SwedishPopulation #GeneticVariation @genomeresearch.bsky.social 🧬 🖥️
genome.cshlp.org/content/earl...
2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Rapid, accurate long- and short-read mapping to large pangenome graphs with vg Giraffe. #Pangenome #ReadMapping #PangenomeGraphs @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
The Emirati T2T-Level Pangenome: A Graph of 58 Complete Genomes. #ReferenceGenome #HumanGenome #T2T #PangenomeGraph #PopulationGenomics #EmiratiGenomeProgram #Genomics @biorxivpreprint.bsky.social 🖥️
www.biorxiv.org/content/10.1...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Deep structural clustering reveals hidden systematic biases in RNA sequencing data. #RNAseq #SystematicBias #SctructuralClustering #Genomics #Bioinformatics @genomeresearch.bsky.social 🧬 🖥️
genome.cshlp.org/content/earl...
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Long-read reconstruction of many diverse haplotypes with devider. #LongRead #Sequencing #Haplotypes #Bioinformatics #Genomics @genomeresearch.bsky.social
genome.cshlp.org/content/earl...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Daily standup meeting: enhancing accountability and psychological safety. #Standup #LabWork #ScientificCulture @cp-trendsbiochem.bsky.social
www.cell.com/trends/bioch...
Daily standup meeting: enhancing accountability and psychological safety
Research laboratories often struggle to maintain a trusting environment which negatively affects team cohesion. Daily standup meetings provide a means to enhance communication, transparency, and…
www.cell.com
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Strong bias in long-read sequencing prevents assembly of Drosophila melanogaster Y-linked genes. #LongRead #Sequencing #GenomeAssembly #DrosophilaGenome #AssemblyBias #Ychromosome @genomeresearch.bsky.social
genome.cshlp.org/content/earl...
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
How structural variation shapes the cancer epigenome. #CancerEpigenome #StructuralVariants @cp-trendscancer.bsky.social
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
2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Mapping rRNA, tRNA, and mRNA modifications in ribosomes at high resolution. #RNAmodifications #RibosomalRNA #Genomics @cp-trendsbiochem.bsky.social
www.cell.com/trends/bioch...
1
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Genome-wide profiling of unmodified DNA using methyltransferase-directed tagging and enrichment. #CpG #unmodifiedDNA #DNAhypomethylation #Genomics @cp-cellrepmethods.bsky.social
www.cell.com/cell-reports...
Genome-wide profiling of unmodified DNA using methyltransferase-directed tagging and enrichment
Tosti et al. report a method for genome-wide, epigenomic profiling that enriches DNA containing unmodified CpG sites for analysis. The enzymatic approach does not damage DNA, nor does it rely on base…
www.cell.com
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Reference-guided assembly of metagenomes with MetaCompass. #Metagenomics #MetagenomeAssembly #Genomics#Bioinformatics @cp-cellrepmethods.bsky.social 🧬 🖥️
www.cell.com/cell-reports...
2
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Reference genome choice compromises population genetic analyses. #ReferenceGenomes #PopulationGenetics #Genomics @cp-cell.bsky.social 🧬 🖥️
www.cell.com/cell/abstrac...
3
jsantoyo.bsky.social
Javier Santoyo @jsantoyo.bsky.social · 6d
Single-cell nascent transcription reveals sparse genome usage and plasticity. #SingleCell #Transcription #Genomics @cp-cell.bsky.social
www.cell.com/cell/abstrac...
4