Our new Nature Biotechnology paper uses millions of #patent citations to study how #biomedical innovations translate to applications. Among interesting findings: teams of diverse researchers are more likely to produce works that can impact translation. Paper: rdcu.be/cmiqw

Our paper comparing hg19 vs. hg38 in variant calling finally came out! 🎊 Huge thanks to Moez Dawood and #bestmentor @SaboAniko, Richard Gibbs and all colleagues BCMHouston BCM HGSC for🔥discussions, bearing my impatience and bringing a closure to my academic career 🙏❤️🧬🎊

Once I asked can't a reviewer just admits a manuscript is perfect without any BS advice that doesn't fit. Today: Reviewer #1: Accept it as it is. #2: I recommend accepting the manuscript. #3: I have no revisions to propose. Congrats to Dr. Khayat and colleagues BCM HGSC !🎊

Excited to share our #SingleCell dissection of #LivingHeart and #HeartFailure biorxiv.org/content/10.110… Led by #SuviLinnaKuosmanen Eloi Schmauch w/ #KikiGalani #TuomasKiviniemi #GuillermoGarciaCardena #MinnaKaikkonen @Calum_OG #OpenHeartSurgery #Ischemic #Cardiac #CAD #scCAD #GWAS

Very proud to share the news that "Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches" is officially published today Elsevier The 1st comprehensive text book on the study & advances of #RareDiseases understanding through #genomics (1/n)

Protein truncating variants in AHDC1 are well-known to cause Xia-Gibbs syndrome. Now, we showed de-novo missense variants in AHDC1 could also be pathogenic and cause similar phenotypes of XGS as truncating variants, but only limited to certain domains! Xia-Gibbs Society Rare Genomics

2. Who will pay the price? #Children, esp children < 12 who can’t be #VaxXed. It is misleading to say “not that many kids die”. #Mortality is a pretty crude outcome measure in #Pediatrics. What about disability, medical trauma, impact on families, mental health?

Our work on Excel and gene Name errors just featured in an article in the main page of #nature Autocorrect errors in Excel still creating genomics headache nature.com/articles/d4158… #Excel #Genomics #dataprotection

Our 1st pre-print! A spatial proteogenomic atlas of the healthy mouse & human liver generated with Martin Guilliams lab. We identified genuine human KCs & conserved KC markers! Also we found steady state LAMs at the bile duct in both species! Check it out: doi.org/10.1101/2021.1…

Please Retweet! Infographic on who is eligible for a booster dose of each of the COVID-19 vaccines now. I summarized the CDC recommendations here:

Happy to share our work on the chromatin landscape of Th17 pathogenicity! We performed combined ATAC-seq with RNA-seq to identify novel regulators of Th17 cells. Great collaboration with Pratiksha Thakore Kuchroo Lab #AvivRegev

A blog post from the archives in honor of #RareDiseaseDay: cureffi.org/2019/04/29/fin…

Excited to share our integrated Human Lung Cell Atlas - combining 46 datasets of the human respiratory system, we map >2.2m cells from 444 individuals across health&disease. Led by Lisa Sikkema, with Martijn Nawijn Alexander Misharin Malte Luecken & many others, thx! biorxiv.org/content/10.110…

For centuries we've had anatomical maps of how the body's organs are connected, but what would a diagram of the immune system’s connections look like? In nature we report our initiative to map the "interactome" that links human immune cells together (1/14)nature.com/articles/s4158…

What an amazing journey working on this together with ⁦Richard Tothill and team⁩! Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment nature.com/articles/s4146…

To map the landscape of neurodegenerative disease clinical trials we analyzed 20 years of trial registrations. The paper: nature.com/articles/s4159… My blog post: cureffi.org/2022/10/24/pre… Key findings in this thread 👇