Paula

@paururo.bsky.social

Decoding #TB 🦠 mysteries at @pathogenomics.bsky.social | Bioinformagician wielding data to unlock genetic secrets 🧬💻 | Check out my code on GitHub https://github.com/paururo

In benchmarking, Pathotypr showed very high concordance with phylogenetic lineage assignment and achieved very fast analysis speeds, making near real-time TB genomic surveillance feasible even on standard desktop hardware. It is available as both a command-line tool and an easy desktop GUI.

The toolkit integrates multiple modules in one workflow: Train / Predict for lineage classification, Split FASTQ / Classify for genotyping from reads or assemblies, and Match Ref to identify the closest reference genome for each sample.

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Pathotypr supports all 14 currently recognised MTBC lineages, including human-adapted lineages L1-L10 and animal-adapted clades A1-A4. It also incorporates recently described diversity such as L10, helping standardise TB genomic surveillance across settings.

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Proud to celebrate 10th anniversary of @i2sysbio.es 🎉 Being part of a community dedicated to discovery, collaboration, and advancing science is truly inspiring. Grateful to contribute, learn, and grow alongside such passionate colleagues. Here’s to many more years of knwledge and impact! 🔬✨

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get_mnv v1.0.1 🧬 It turns multiple SNVs in the same codon into true MNVs, so your protein impact annotation is correct. v1.0.1 adds GFF3 + multi-sample VCF support, bgzip/Tabix + BCF output, and reproducible JSON summaries/manifests. github.com/PathoGenOmic... @i2sysbio.es @pathogenomics.bsky.social

Release 1.0.1 · PathoGenOmics-Lab/get_MNV

Added --gff support for gene annotation (GFF/GFF3). --chrom support for selecting one or multiple contigs. --sample support for selecting a sample in multi-sample VCFs. --strict validation mode fo...

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