GRanges: A Rust Library for Genomic Range Data from Vince Buffalo biorxiv.org/content/10.110… github.com/vsbuffalo/gran…

Today, RGC has published an important paper in nature today, describing an analysis of close to a million human exomes (n=983,578) as a single variant call set (!). This is the largest and most diverse rare variant database created so far. This impressive feat is accomplished by

I was reading the recent nature paper on the impact of human genetics on drug success (nature.com/articles/s4158…). I found one of the findings particularly interesting.
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This is a follow-up work of Matt Nelson's famous 2015 paper published in natureGenet

Human ancestors may have hunted cave bears 300,000 years ago | Science science.org/content/articl…

New paper introducing RESHAPE, a method simulating genomes of hypothetical descendants that can be used as reference panels safeguarding against re-identification threats. Read more: nature.com/articles/s4358…. Great work done by Théo Cavinato!

Here's a thread about our new preprint biorxiv.org/content/10.110… on human germline mutation.

As construction starts on our new HQ, our Head of Lab Samantha Welsh shares how it will “allow us to meet the growing demand for our millions of unique biological samples, enabling scientists across the world to make great leaps forward in health and disease research” Read more👇

Phasing genomes is heading towards a solved problem as datasets become very large. This was predicted by Augie Kong and deCODE genetics in 2008 with the long range phasing of the Icelandic sample. This will greatly aid family based analyses.

Nothing has unified the accounts on my Twitter feed more than dunking on Huberman's misunderstanding of basic probability theory.

Martin Steinegger 🇺🇦 Risk mitigation: I should make minimap2 closed sourced and set up a web service such that each user is only allowed to align 10 reads per day, because minimap2 is used for studying in viral/bacterial strains that in theory can be misused for wrong purposes.

Excellent primer here on genetics, GWAS, heritability, polygenic scores, and family-based analyses with examples and derivations.

Rapid progress has been made linking genetic variation with behavioral phenotypes and economic applications are beginning to emerge, from Dan Benjamin, David Cesarini, Patrick Turley, and Alexander Strudwick Young nber.org/papers/w32404

Here's a pretty good summary of the state of the field for how genetic data can be applied in economics research. On top of tying much of the field together in a consistent framework, there are also a handful of novel theoretical results. Excited to see this out!

Many #GenomeBrowsers only show one #genome assembly at a time. NCBI presents a new visualization tool called the #ComparativeGenomeViewer ( #CGV ) that aids in pairwise comparison of whole-genome eukaryotic assembly-assembly alignments #PLOSBiology plos.io/3QYDtUP

Our paper on whether PC adjustments in GWAS and PGI prediction are picking up direct genetic effects is out on bioarxiv!
biorxiv.org/content/10.110…

Our paper on genetic mapping voice features is now online:
nature.com/articles/s4200…

In medieval England, leprosy spread between red squirrels and people, genome evidence shows 🦠🐿️ phys.org/news/2024-05-m…

Now published in Nature Mental Health!
nature.com/articles/s4422…

Main difference since the first preprint was posted: we now have results for #autism as well! Results are similar to Bipolar and OCD 🧵👇

New pre-print from the PGC Consortium #Depression Group: Multi-ancestry GWAS of depression with 685,000 cases identifies 697 independent associations, implicating known & novel drug targets.

🔗 medrxiv.org/content/10.110…

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Our SBayesRC method is now published in Nature Genetics! SBayesRC is a full Bayesian method for polygenic score prediction that can analyse all common variants jointly with functional annotations in a single step. Zhili Zheng Institute for Molecular Bioscience nature.com/articles/s4158…