Kicking off our new webinar series ‘Advances in spatial omics’ with the opening #webinar about technological advances in spatial transcriptomics. Registration is free but essential ebi.ac.uk/training/event… #bioinformatics #DataScience #spatialomics #singlecell vlorenzi

Protein isoform-centric therapeutics: expanding targets and increasing specificity tinyurl.com/2v5c3us8 Many genes encode multiple protein isoforms. This new review discusses targeting isoforms as a route to drugs with greater specificity and fewer adverse effects

1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… AJHG

Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms biorxiv.org/cgi/content/sh… #biorxiv_genomic

Congratulations to all the new Starting Grant winners! Empowering researchers early on in their careers - that’s one of the core tasks of European Research Council (ERC). Especially happy to welcome UK researchers back. They’ve been missed. This influx is good for the research community overall!

What an amazing week so far it has been at the Paralympics. We are so proud of everyone that has competed and given their all. A really tremendous watch 👏 #Paralympics2024

We are now ERDERA! This new partnership builds on EJPRD achivements to continue advancing diagnosis, prevention, and treatment research for the 30+ million people living with a rare disease in Europe and beyond. 👉 erdera.org

For those interested in mapping 3D genome structure: our fast and low-cost method combining CUT&Tag with HiCAR is out now Krzysztof Herka Larry Melidis Siskin Winnie Hui Stefan Schoenfelder 🇺🇦 genomebiology.biomedcentral.com/articles/10.11…

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model doi.org/10.1093/hmg/dd…

Geneticists in training, have a look 👀, opportunities going a begging European Society of Human Genetics (ESHG) eshg_young

Check out my Spotlight article in Trends in Genetics in which I highlight an exciting article from Amit Singh that appeared in PNAS earlier this year. He identifies a role for the Dve transcription factor and its human ortholog in the placement of eyes. cell.com/trends/genetic…

🚨Preprint alert💡 Ciliary marginal zone of the developing human retina maintains retinal progenitor cells until late gestational stages biorxiv.org/content/10.110… Congratulations Kiara C. Eldred and team! Isabel Ortuño Dawn Hoffer LaTorre LAB Thomas Reh

Single cell isoform

The European Rare Diseases Research Alliance ERDERA kicks off with a bold vision to make Europe a global leader in rare diseases research and innovation. 🚀 Read press release🗞️erdera.org/wp-content/upl…​ 🌍💙 #ERDERA #RareDiseases EUScience&Innovation🇪🇺 Horizon Europe🇪🇺 Inserm

Insight into the role of #TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant by Cécile Brachet Martine Cools Elfride De Baere Therina du Toit et al EJE Volume 191, Issue 2, August 2024 Read the open-access article 👉 doi.org/10.1093/ejendo… #TXNRD2

Using SpliceVarDB, authors Patricia Sullivan & Mark Cowley AJHG' latest article have consolidated and harmonized experimental splicing evidence for over 50,000 genetic variants from over 8,000 genes, half of which affect noncanonical splice sites: cell.com/ajhg/fulltext/… #ASHG

An isoform-resolution transcriptomic atlas of colorectal cancer from long-read single-cell sequencing dlvr.it/TD8WlR

Check out FICTURE for exploring tissue architecture in large, high-res spatially resolved transcriptomics datasets from Yichen Si, Jun Hee Lee, Hyun Min Kang and colleagues! nature.com/articles/s4159…

An overview of key online resources for human genomics: a powerful and open toolbox for in silico research academic.oup.com/bfg/advance-ar…

The latter part of my thesis work on RNA binding proteins and T cells is out in Science Magazine ! Here we find that one of the most conserved elements in the genome helps determine how your immune system responds to pathogens. #ScienceResearch science.org/doi/10.1126/sc…