📢STP Equivalence funding available for 200 healthcare scientists 📢 Along with the Academy for Healthcare Science we are delighted to announce an exciting initiative that aims to increase the number of statutory registered healthcare scientists. ℹ️ nshcs.hee.nhs.uk/news/stp-equiv…

SpliceVault predicts the precise nature of variant-associated mis-splicing nature.com/articles/s4158…

Huge congratulations to Prof Matt Hurles (Matt Hurles ) who has been appointed as the new Director of Wellcome Sanger Institute! 🎊 Currently Head of the Human Genetics Programme, Matt will formally take up the Directorship later this year. Find out more⤵️ bit.ly/3Xq3T26

In a packed room #ACMGMtg23 with Heidi Rehm Les Biesecker and Steve Harrison presenting the next version of variant classification work at ACMG ClinGen AMP and CAP. Version 4 will be points based. All slides available at tinyurl.com/ACMG23

The #gnomAD browser now includes variant co-occurrence counts by gene. We hope this will help with interpretation of co-occurring variants in the context of recessive conditions. Read more about this feature on our blog post broad.io/gnomAD_co_occu… #ACMGMtg23

Determining the phase of two variants is a key part of recessive diagnoses, but is challenging to do with short-read sequencing data and often requires parental data. We used gnomAD to aid in phasing, and explored compound heterozygosity in these data 1/ biorxiv.org/content/10.110…

What is an exon??? New paper w/ Dr. Edward Wallace and julie aspden in Cell Genomics : cell.com/cell-genomics/… Cue 🧵1/8

Delighted our big DDD paper is now out describing more than a decade of work finding rare genetic disorders. Huge thanks to everyone involved – scientists, bioinformaticians, clinicians, genetic counsellors, research nurses, funders, patients & families. nejm.org/doi/full/10.10…

New blog post! rrwick.github.io/2023/04/19/vie… I deal with a lot of tab-delimited data in bioinformatics, so I recently spent some time putting together Bash functions for viewing them on the command line. Might be useful to others! (1/5)

- Are tandem repeat (TR) genotyping tools accurate beyond well-studied loci? - How often do they over-/underestimate expansions? - What % of variant loci are missing from existing genome-wide TR catalogs? To answer these questions, we created a genome-wide TR truth set: [1/N]

"Nearly 1 in 4 CSSVs [canonical splice site variants] may not cause LoF [loss of function] based on analysis of RNA-seq data" (N=121) Oh et al. medRxiv medrxiv.org/content/10.110…

So Oxford Nanopore discovered something a few days ago - and it has to do with light. And they posted this image (sorry, too good not to share off the community). Yes, that’s 469% increased output. So, we decided to give it a shot and …

Finally, we show how to leverage this pQTL catalogue to prioritize missense variants in phenome-wide association studies. Combining PTVs with missense cis-pQTLs associated with decreased protein abundance increased the power to detect gene-disease associations

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)

The released set has ~800k samples, but we started with a 955,000 sample call set! *Staggeringly* large! We developed the Scalable Variant Call Representation (SVCR) and implemented it as the Hail VDS to enable this nearly 1M sample callset. 1/3

Gnocchi extends our constraint metrics to the non-coding genome, highlighting for instance, disease-associated non-coding CNVs

This thread is like a Michelin-started meal, @Kate_Sci

DECIPHER has a new handle! To better reflect our URL and to make it easier to find us, we are now @deciphergenonomic

Final appeal from Yves Moreau to work on maintaining public trust in the protection of access to genomic data, critical for participation in research and diagnostics. #BSGM2024 BSGM and European Society of Human Genetics (ESHG) actively involved!

Next #BSGM2024 plenary session on gene therapies. First talk Rafael J. Yáñez-Muñoz president BSGCT, providing an overview of clinical application of gene therapies in rare and common diseases ➡️ great ISCT resource on approved gene therapy products: bit.ly/2Kf9OWo