📢📢Dear friends, our new software, Splam, a deep learning-based splice junction predictor, is now officially released🎉If you do RNA-Seq data analysis or need a reliable tool to evaluate splice junctions/introns, Splam is the perfect fit for you 🔗 github.com/Kuanhao-Chao/s… (1/10)

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Nature research paper: The complete sequence of a human Y chromosome go.nature.com/3KPVjpC

The new AlphaMissense catalogue from Google DeepMind can be used with the Ensembl Variant Effect Predictor to predict variant pathogenicity and therefore aid interpretation. ebi.ac.uk/about/news/tec…

I am happy to finally announce the release of #Snakemake 8.0! In about half a year, we have modernized large parts of the code base. Most importantly, Snakemake 8.0 introduces a versatile plugin system, redesigned support for external storage, and modernized documentation. (1/n)

I need some help! biostars.org/p/9587681/

I was a "part" of this linkedin.com/posts/benliesf…

Minipileup, a straightforward pileup-based multi-sample variant caller. Useful for data inspection or when mainstream callers are not applicable. Initially developed in 2012 as part of htsbox. Now released in a separate repo: github.com/lh3/minipileup

Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

A deep catalogue of protein-coding variation in 983,578 (‼️) individuals nature.com/articles/s4158… 🧬🖥️ rdcu.be/dIweL

Andrew Bowman Matplotlib Yes it's on the python-graph-gallery.com! On any major page of the website you'll find a section like this

⚠️Here’s yet another option other than BioRender! ⚠️ 📢 SciDraw is a free repository of high quality drawings of animals, scientific setups, and anything that might be useful for scientific presentations and posters. 🔁❤️Free Science! RIP BioRender!!

Where are all the #GFH2025 tweets Konrad Platzer ? We live through your fingers ...so please share

Finding easy regions for short-read variant calling from pangenome data arxiv.org/abs/2507.03718 🧬🖥️🧪 github.com/lh3/panmask