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I'm excited to share our new preprint, led by my postdoc Dafni and Beryl Cummings in collaboration with Garrett Garborcauskas, Daniel MacArthur, Oxford Nanopore and others: Transcriptome variation in human tissues revealed by long-read sequencing. Thread 👇 biorxiv.org/content/10.110…

Our work on genetic architecture of molecular traits is out now: elifesciences.org/articles/58615 We studied GWAS of urate, IGF1 and testosterone-chosen because much is already known about their biology. Eg for testosterone we see clear enrichment of GWAS hits in the biosynthesis pathway

We are excited to announce the latest public release of FinnGen results and summary statistics! The results based on >218K individuals, >16M variants & >2800 disease endpoints can be browsed online or downloaded. #OpenScience ➡️finngen.fi/en/access_resu… ➡️r5.finngen.fi

We have an effective toolkit to help many people living with IBD. When deployed early in the disease course we can achieve deep and sustained remission for many patients. The following strategy [👇] is not perfect, but is cost-effective and can be adopted widely. NEW thread 🧵

Our pre-print describing the UK Biobank Pharma Proteomics Project (UKB-PPP) is now online! biorxiv.org/content/10.110… We identify 10k+ genetic associations w/ protein concentrations; 85% are new. The data should help drive discovery of new biomarkers, diagnostics & medicines.

Excited to visit #UK next week for Genomics England's annual #DiscoveryForum bringing industry, government, healthcare, academia with the goal of shaping the future of #PrecisionMedicine and #Genomics. Ping me if you're in town to meet up! Register here: discovery-forum.co.uk

Interesting contrast in the genetic architectures of heart failure (HF) with reduced ejection fraction and with preserved ejection fraction. The former is more heritable, yields more loci and captures known risk factors. nature.com/articles/s4146…

Inputting citations, especially of things that aren't in databases, can be annoying. Introducing citeanything.theo.io, which extracts a bibtex-formatted formatted citation from arbitrary free text using GPT-3.👇

A 🧵 on some of my intuitions/priors about the genetics of complex and molecular traits in humans (i.e. what I think of as typical), largely motivated by GWAS/QTL studies over the past decade [citing papers with nice figures where possible]

Latest preprint the lab (and PANTS), using RNA-seq from 324 #crohns disease patients to identify transcriptional programmes associated with anti-TNF response/non-response. See this great thread from Ben Bai who led the project while a PhD student Wellcome Sanger Institute.

Is having even more gene-disease associations still useful for picking drug targets? For which types of programs does it matter? Has pharma shifted focus towards genetically validated targets? New paper by me, Matt Nelson, Coco (Chengliang) Dong, & Jeffery Painter doi.org/10.1101/2023.0…👇

We’re thrilled to share results from our ATTRibute-CM Phase 3 clinical trial of acoramidis in transthyretin amyloid cardiomyopathy (ATTR-CM). Thank you to the patients, families, and healthcare providers who have made this study possible. bit.ly/44OjFHQ

The recent approval of Casgevy, a CRISPR ex vivo gene editing treatment for sickle cell disease, in the UK inspired me to write this post (nature.com/articles/d4158…). Some thoughts on the famously discussed time gap between genetic discovery and FDA approval--a weekend read.

Happy to be back at the Genome Campus for #GRD24

Can a single small molecule rescue the stability of nearly all mutations in a protein? Our new preprint by Taylor Mighell + thread biorxiv.org/content/10.110…

Thrilled to share the latest preprint from my lab: medrxiv.org/content/10.110…. Co-led by Tobi Alegbe and Bradley Harris, supervised by myself and Tim Raine, we generated IBDverse💫 - gaining insights into genetic susceptibility and pathology of inflammatory bowel disease (IBD).

Our new study in American Journal of Human Genetics confirms that ADH1 is more prevalent & underdiagnosed than previously thought. Learn more about the findings: bit.ly/4macQJE