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Excited to share our new Nature Methods paper on longcallR, a Rust tool for long-read RNA-seq that jointly performs SNP calling and phasing, and enables haplotype-specific junction analysis. Thanks to @lh3lh3 for the support and guidance. Paper: nature.com/articles/s4159…

🧵 New preprint from the PGC Anxiety Working Group: the largest GWAS of generalised anxiety symptoms to date, analysing 700k across 14 cohorts. 📄 Skelton et al found 74 genome-wide significant loci, 39 novel for anxiety doi.org/10.1101/2025.0…

You can decline to lift a finger against the Israelis for your entire career and help them accomplish decades long goals and stand there and salute their aircraft while they obliterate all your air defense systems and a year or two later they'll be issuing public demands for your murder and referring to you as the head of the snake. There's a lesson there for those auditioning for shabbos goyhood.

Exome sequencing and analysis of 44k South Asians from the Genes & Health cohort (G&H) now published in Nature Genetics. Of all the South Asian centric cohorts, G&H is my favorite. They have been doing high quality work and sharing the results generously to everyone in the field. G&H is dedicated exclusively for British South Asians of Pakistani and Bangaldeshi heritage. In the current work, the authors studied whole exome sequencing (WES) of 44,028 individuals. The value of such cohorts become immediately evidenct when you contrast with existing large European-based cohorts/databases such as UK Biobank, gnomAD. Some interesting stats reported in this paper: - 26% of G&H coding variants are completely absent in gnomAD (this rises to ~50% when compared only with the European subset of gnomAD) - 33% offspring of consanguineous marriages (vs 2% in the UKB) - consequently, 1.8% of average genome is in runs of homozygosity (ROH) (vs 0.4% in UKB) - this high autozygosity yields 2.4x more homozygous genotypes than what you'd expect under random mating - for ~3k genes at least one homozygous (or comp het) pLOF carrier ('knockouts') was found, of which 1,669 are seen in only G&H despite being 10x smaller than UK Biobank. For 546 genes, knockouts are seen only in G&H when compared to even 5 major larger biobanks combined (~1.4 million) Great work and an incredible progress in South Asian genetics, again, unsurprisingly from a South Asian cohort built outside South Asia Congrats to G&H team! Kim et al. Nat Gen 2026 nature.com/articles/s4158…

"Man in military fatigues" is a new one.

eMERGE returned PRS/Fam Hx/Mono results to n=23,840, 35% hi-risk for ≥1 of 11 diseases. Note: 1) high burden of genetic risk for common disease; 2) large-scale genomic risk assessment is feasible; 3) equity challenges must be addressed for implementation doi.org/10.1016/j.ajhg…

Balancing off-target and on-target considerations for optimized CRISPR-Cas9 knockout library design dlvr.it/TRhYhH

We wrote a review on using machine learning to study evolutionary genetics and molecular evolution in Trends in Genetics @TrendsGenetics . It is open access—please read it if you are interested in this topic sciencedirect.com/science/articl…

New online! How classical genetics uncovered key determinants of TE silencing dlvr.it/TRhn31

It’s well known that inflammation increases cancer risk, but how? The answer: the epigenome "remembers" inflammation and primes stem cells for cancer. Here is our paper: nature.com/articles/s4158… And a special shoutout to the lead author @snaga13 A 🧵

Nature research paper: Dominant clones leverage developmental epigenomic states to drive ependymoma go.nature.com/3NEpYeq

🧬New today! 📄Genome-wide detection of human 5′ UTR variants that impact protein translation 🧑‍🤝‍🧑 @casanova_lab @peng @zhangpeng1202 & co cell.com/ajhg/fulltext/…

A combination of 4 biomarkers 👉polygenic risk score 👉LDL-C 👉Lp(a) 👉hsCRP shows high predictive performance for incidence of coronary artery disease, especially in younger individuals.

Then, from Lawson & co 📰Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study cell.com/ajhg/abstract/…

First, from Limdi et al 📰The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments cell.com/ajhg/fulltext/…

Check out our new paper! 🧐 A high-coverage Neandertal genome confirms small, isolated populations, Denisovan admixture, and extreme population structure accelerating differentiation, with levels matching the most divergent humans today. pnas.org/doi/10.1073/pn…

ONLINE NOW: Advances in blood-based biomarkers of gut barrier integrity dlvr.it/TRfVJn

🚨🚨TWO new eMERGE papers today that explore genome-informed risk assessments! #PRS #genomics #EHR

That's the tweet. (Context: Barkha citing a source for her 'report' that babies were beheaded in their bedrooms in Israel).

It is worthy of note that the group which is claiming responsibility for the burning of ambulances last night refers to Palestine as “the land of Israel.” It does so in both English and Arabic, which is particularly unusual.