Javier Santoyo

Evaluating the potential and limitations of nanopore adaptive sampling for targeted transcriptome sequencing. #LongRead #AdaptiveSampling #TargetedSequencing #Transcriptomics #Genomics @nanoporetech.com 🧬
genomebiology.biomedcentral.com/articles/10....

Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation. #HumanGenetics #GeneticVariants #DeNovoMutations @narjournal.bsky.social 🧬 🖥️
academic.oup.com/nar/advance-...

Ultra-sensitive DNA sequencing maps mutations that precede cancer. #DNAseq #Sequencing #GeneticVariants #CancerMutations #Genomics @nature.com 🧬 🧪
www.nature.com/articles/d41...

Choose your human genome reference wisely. #HumanGenome #ReferenceGenome @natmethods.nature.com #TechnologyFeature
www.nature.com/articles/s41...

Sperm sequencing reveals extensive positive selection in the male germline. #GeneticaVariants #Sequencing #MaleGermline #DiseaseRisk @nature.com 🧬 🖥️
www.nature.com/articles/s41...

📣 PacBio Announces Major Advances for #Revio and #Vega to Lower Genome Cost and Expand Multiomic Capabilities
New SPRQ-Nx chemistry: HiFi genome for less than $300 🧪 🧬
#HiFi #LongReads #SPRQ_Nx #BetaAccess #SMRTcell #ReusableChip @pacbio.bsky.social
investor.pacificbiosciences.com/news-release...

De-extinction technology and its application to conservation. #DeExtinctionTechnology #Conservation #JournalOfHeredity
academic.oup.com/jhered/advan...

The nature of mutation: a legacy of bacterial genetics. #BacterialGenetics #Mutations #GeneticsJournal
academic.oup.com/genetics/adv...

The ChickenGTEx portal: a pan-tissue catalogue of regulatory variants shaping transcriptomic and phenotypic diversity. #ChickenTranscripts #RegulatoryVariants
@narjournal.bsky.social
academic.oup.com/nar/advance-...

Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics
bmcgenomics.biomedcentral.com/articles/10....

Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia. #HumanGenome #ReferenceGenome #HumanPopulation #JapanPopulation #SaudiArabiaPopulation #Genomics #Bioinformatics #ScientificData
www.nature.com/articles/s41...

SMART v10: three decades of the protein domain annotation resource. #ProteinDomain #ProteinAnnotation @narjournal.bsky.social
academic.oup.com/nar/advance-...

An Overview of Computational Methods for Gene Prediction in Eukaryotes: Strengths, Limitations, and Future Directions. #GenePrediction #Review @BioinfoAdv
academic.oup.com/bioinformati...

Advances and challenges in understanding evolution through genome comparison. #Evolution #GenomeComparison #Genomics #Bioinformatics @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...

KinMethyl: Robust methylation detection in prokaryotic SMRT sequencing via kinetic signal modeling and deep feature integration. #DNAmethylation #ProkaryoticDNA #HiFi #Sequencing #KineticSignal @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...

Nextpie: A web-based reporting tool and database for reproducible Nextflow pipelines. #Nextlow #WebReportingTool #Bioinformatics @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...

FastGA: Fast Genome Alignment. #GenomeAlignment #Genomics #Bioinformatics @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...

Framework for Monitoring Urban Microbiomes and Diagnosing Pathogen Risk. #Metagenomics #UrbanMicrobiome #Genomics #MAGs #Bioinformatics 🧬 🖥️
academic.oup.com/bioinformati...

Full-length isoform constructor (FLIC) – a tool for isoform discovery based on long reads. #RNAisoforms #FullLengthIsoforms #IsoformDiscovery #LongRead #Sequencing #Genomics #Bioinformatics 🧬 🖥️
academic.oup.com/bioinformati...

scBSP: A fast and accurate tool for identifying spatially variable features from high-resolution spatial omics data. #SpatialOmics #Bioinformatics 🧬 🖥️
academic.oup.com/bioinformati...

Comprehensive benchmarking with guidelines for analyzing transposable element-derived RNA expression. #TransposableElements #Benchmarking #RNAexpression @biorxivpreprint.bsky.social 🧬 🖥️
www.biorxiv.org/content/10.1...

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...

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...

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/...

Potential impact of long-read sequencing on complement-mediated diseases. #LongRead #Sequencing #Genomics #ComplementGenes #Immunology @cp-trendsimmuno.bsky.social 🧪 🧬 🖥️
www.sciencedirect.com/science/arti...

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...

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...

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...

Evaluation of long-read genome sequencing for genomic profiling of myeloid cancers. #LongReads #Sequencing #GenomicProfiling #MyeloidCancers @jmdiagn.bsky.social
www.jmdjournal.org/article/S152...

A closed-loop method for precise genome size estimation using HiFi reads. #GenomeSize #HiFi #LongReads #Genomics #Bioinformatics #BMCgenomics 🧬 🖥️
bmcgenomics.biomedcentral.com/articles/10....