🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

When I started working on #CRISPR to fight heart disease >10 years ago, I never imagined it might lead to cures for rare inborn errors of metabolism. Here’s how it’s happening! Presented/published today #ASHG23 #ASHG2023 ASHG plenary + AJHG + Human Genetics and Genomics Advances 🧵

Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease | medRxiv medrxiv.org/content/10.110…

Our work on 3D genome organization in human cancer is out! In collaboration with Yanding Zhao Howard Chang William J. Greenleaf and TCGA we used HiChIP to profile enhancer connectivity and rewiring in primary tumors. nature.com/articles/s4158…

My interview on the Good Morning Kuwait show at KTV2 to raise awareness on undiagnosed disease #UndiagnosedDiseaseDay

Already 30+ registered for our 7th Structural Variants, Graph genomes #bioinformatics #hackathon: fritzsedlazeck.github.io/blog/2025/hack…… Registration closes 10th of Aug! Groups will work on interesting topics that will be published in F1000. BCM HGSC From the Labs at Baylor College of Medicine Rice Computer Science

🛠️ The IGVF TAP-seq design tool enables efficient primer design for targeted single-cell RNA-seq experiments. Generate gene-specific primers with Primer3 and assess off-targets using BLAST. Uncover the tool: bioconductor.org/packages/relea…

Today was a big day for the lab. We had two back to back thesis defenses and the defenders defended with great science and character. Congrats to DR. Kelly Cochran & DR. Soumya Kundu on this momentous achievement. Brilliant scientists with brilliant futures ahead. 🎉🎉🎉

Do you have an interesting benchmark experiment? We wanna hear about it! Special issue in Genome Biology live now: biomedcentral.com/collections/CO… Submission Deadline: 28 January 2026 #bioinformatic #genetic #genomics please share with your peers!

News: Infant with rare, incurable disease is first to successfully receive personalized gene therapy treatment nih.gov/news-events/ne…

Today "a milestone in the evolution of personalized therapies for rare & ultra-rare inborn errors of metabolism" —the 1st human to undergo custom genome editing —outgrowth of decades of NIH funded research nejm.org/doi/full/10.10… nejm.org/doi/full/10.10… NEJM

Interested in #ATP1A3-related movement disorders? Registration is open for "ATP1A3 in Disease Symposium" held in conjunction with the 17th International Meeting on P-Type ATPases in Health & Disease. The symposium is virtual and runs from Sept 15-16, 2025.

Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay dlvr.it/TKsVQg

This preprint is now out after peer review! Check it out: cell.com/cell-genomics/… Huge congrats (and thanks!) to the whole team that contributed!

ASHG 2025 abstract submissions are open! 🔹 Abstract deadline: June 9, 5:00 PM ET 🔹 Free submissions for ASHG members, low-resource countries & NIH staff 🔹 Awards & journal opportunities for selected presenters #ASHG2025 #HumanGenetics #Genomics #ProgramCommittee #ASHG

Continuing #GenomicMechanisms25 with Anshul Kundaje (anshulkundaje@bluesky) from Stanford University: 🗣️ Deciphering regulatory syntax and #genetic variation with #DeepLearning models #science #Genome #Drug Novo Nordisk Foundation Center for Genomic Mechanisms Disease at Broad Institute

It was such a great experience to work with Suja and her team to uncover one of the non-canonical rules of NMD. GREGoR Consortium Simons Foundation nhlbi.nih.gov/science/trans-…

IGVF is advancing our understanding of how genomic variation affects genome function to influence phenotypes. 1️⃣ study, 1️⃣ collaboration, 1️⃣ discovery at a time.

With the support of incredible partner institutions, HPRC is creating a human pangenome reference and resource that represents global genomic variation… One initiative at a time.

CellSpace: a scalable, sequence-informed tool for scATAC-seq that captures cell states, TF activity & mitigates batch effects across datasets. Explore the full publication for details and CellSpace tool access: nature.com/articles/s4159…