Genetic variants can cause protein-coding mutations that result in disease. What about in alternative isoforms? Excited to share my first first-author pre-print! Here we show many variants reside in tissue-specific isoforms, causing coding mutations. 1/
https://bit.ly/455I6T6
30.07.2025 11:09 — 👍 5 🔁 1 💬 1 📌 1
We find many rare and common variants map to alternative isoforms to cause missense mutations - with many of the isoforms not annotated, and identified from long-read RNA-seq.
Check your variants location, and the gene’s transcripts when thinking of function.
29.07.2025 14:37 — 👍 0 🔁 0 💬 0 📌 0
GWAS to mechanism: when non-coding is coding. Beautiful insightful science from @gweykopf.bsky.social @simonbiddie.bsky.social Joe Marsh and many colleagues. @uoe-igc.bsky.social @cmvm-edinburghuni.bsky.social www.biorxiv.org/content/10.1...
28.07.2025 09:50 — 👍 12 🔁 6 💬 0 📌 0
Head of Genome Biology Dept @EMBL,
Scientist, Principal investigator, Professor
Exploring genome regulation during development,
and everything to do with enhancers.
3D genome, chromatin topology,
cell_fate, embryonic Development,
Single Cell genomics
Professor of Genetics
Department of Biochemistry
University of Oxford
kloselab.co.uk
Genome Scientist. Studies how DNA makes humans, mice, plants, microbes. At Lawrence Berkeley National Lab and Joint Genome Institute. Views are my own.
Associate Professor at University of Copenhagen. Computational genomicist interested in gene regulation. @robin_andersson on X
https://anderssonlab.org
Group Leader
The Genome Function Laboratory
The Francis Crick Institute, London
shendure lab |. krishna.gs.washington.edu
Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation.
https://www.varianteffect.org
https://www.linkedin.com/company/atlas-of-variant-effects-alliance
A multidisciplinary community of researchers with the mission to better understand the roots of disease and narrow the gap between new biological insights and impact for patients. Broadinstitute.org
Epigenetics & Genomics
Harvard University & Broad Institute
https://www.macfound.org/fellows/class-of-2023/jason-d-buenrostro
buenrostrolab.com
I run a genomics lab @ University of Edinburgh investigating the role of genetics on health & disease. Supporter of Technician Commitment. CSci MIScT. Hill runner.
Molecular cancer biologist fascinated by gene regulation, chromatin and epigenetics. Based in Denmark.
Postdoc in Luca Giorgetti lab, FMI
Chromatin, Hi-C, gene regulation
Co-organizer of Sci.STEPS mentoring program
Director of ATLAS (www.sdu.dk/en/atlas) and ADIPOSIGN (www.sdu.dk/adiposign)
Head of Functional Genomics & Metabolism (www.sdu.dk/bmb/functionalgenomics) at @sdu.dk
Chair of Biochemsitry & Molecular Biology at @d-ias.bsky.social
BoD @carlsbergfondet.dk
PhD student in the Bickmore lab at @MRC_hgu in Edinburgh | gene regulation, enhancer biology, genetic risk variants 🧬 | sport enthusiast 🏃🏼♀️🏋🏻♀️🏇
Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU)
Assistant Professor @ Stanford Genetics & BASE Initiative. Mapping the regulatory code of the human genome to understand heart development and disease. www.engreitzlab.org
A community of University of Edinburgh researchers seeking genome knowledge for human, animal, plant and ecosystem health.
onehealthgenomics.ed.ac.uk
postdoc @uoe-igc.bsky.social
computational biology | disease genetics
Our mission is to improve the lives of people living with genetic disease and cancer through research.
Chromatin and transcription aficionado. Postdoc in Bickmore lab.
