GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection. #DataSimulation #SequenceData #LowFrequencyMutations #Bioinformatics #Genomics Scientific Reports nature.com/articles/s4159…

A fuzzy sequencer for rapid DNA fragment counting and genotyping. #DNAsequencing #FuzzySequencer #Genomics Nature Biomedical Engineering nature.com/articles/s4155…

DiffMethylTools: a toolbox of the detection, annotation and visualization of differential DNA methylation.#DNAmethylation #DifferentialMethylationAnalysis #Bioinformatics #Genomics bioRxiv Bioinfo biorxiv.org/content/10.110…

NANOME: A Nextflow pipeline for haplotype-aware allele-specific consensus DNA methylation detection by nanopore long-read sequencing. #DNAmethylationn #Nanopore #LongRead #Sequencing #Genomics #Bioinformatics bioRxiv Bioinfo biorxiv.org/content/10.110…

Unbiased whole genome comparison of Pan paniscus (bonobo) and Homo sapiens (human) through a novel sequence match-based approach. #WGS #GenomeComparison #Genomics #Bioinformatics bioRxiv Bioinfo biorxiv.org/content/10.110…

💡 #KnowledgeHighlight | Biodiversity Genomic Data Management Hub - Training modules by GenomicsAotearoa 🔗 genomicsaotearoa.github.io/data-managemen… Explore more open-access training materials in the ERGA #KnowledgeHub ➡️ knowledge.erga-biodiversity.eu #DataManagement #genomic #data #biodiversity

An optimised computational approach for the identification of somatic structural variants in cancer. #SomaticStructuralVariants #CancerGenetics #Genomics #Bioinformatics #ToolsBenchmarking bioRxiv Bioinfo biorxiv.org/content/10.110…

A comparison of long-read single-cell transcriptomic approaches. #LongRead #SingleCell #Transcriptomics #ToolsBenchmarking #Genomics #Bioinformatics bioRxiv Bioinfo Anita Scoones biorxiv.org/content/10.110…

Microbiome-based therapeutics towards healthier aging and longevity. #Mibrobiome #Aging #MicrobiomeTherapeutics Genome Medicine genomemedicine.biomedcentral.com/articles/10.11…

We turn 25 today! July 7th marks the 25th anniversary of the human genome going online and the start of the UCSC Genome Browser. Then vs. now, we have 165k monthly visitors, and our codebase is over three million lines of code. See our news for more: bit.ly/genomeBrowser2…

Preprint on "Finding easy regions for short-read variant calling from pangenome data": arxiv.org/abs/2507.03718

Using >130 human & 12 primate haplotypes, we reconstruct the chromosome 22q11.2 evolution to identify haplotype structures linked to deletions or inversions, explaining the lower prevalence of 22q11.2 deletion syndrome in individuals of African descent. biorxiv.org/content/10.110…

📆 Register your interest to join #BioHackEU25 in person before 15 July! All expressions of interest will be reviewed, and accepted attendees will be notified by the end of July. More information: loom.ly/UfwZREk

Agptools: a utility suite for editing genome assemblies. #GenomeAssembly #AssemblyEditing #AGPfiles #Genomics #Bioinformatics academic.oup.com/bioinformatics…

CCRR: A User-Friendly Platform for Analyzing Complex Chromosomal Rearrangements in Tumors. #SVs #CNV #ChromosomalRearrangements #Genomics #Bioinformatics academic.oup.com/bioinformatics…

Benchmarking Peak Calling Methods for CUT&RUN. #CUTandRUN #Benchmarking #Genomics #Bioinformatics academic.oup.com/bioinformatics…

PeGAS: A Versatile Bioinformatics Pipeline for AMR, Virulence and Pangenome Analysis. #AMR #PangenomeAnalysis #Genomics #Bioinformatics Bioinformatics Advances academic.oup.com/bioinformatics… Github: github.com/liviurotiul/Pe…

PangenePro: an automated pipeline for rapid identification and classification of gene family members. #Pangenomes #GeneClassification #Genomics #Bioinformatics Bioinformatics Advances academic.oup.com/bioinformatics…

Genome Evaluation Pipeline (GEP): A fully-automated quality control tool for parallel evaluation of genome assemblies. #GenomeAssembly #QualityControl #Snakemake #Genomics #Bioinformatics Bioinformatics Advances academic.oup.com/bioinformatics…

BugBuster: A novel automatic and reproducible workflow for metagenomic data analysis. #Metagenomics #DataAnalysis #AutomaticPipeline #Genomics #Bioinformatics Bioinformatics Advances academic.oup.com/bioinformatics…