billbio.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

We have launched an updated Gene2Phenotype website with a fresh new look. We now support more detailed disease mechanism information in our expert-curated gene-disease models. Available at www.ebi.ac.uk/gene2phenotype.

submitted 7 hours ago • 0 comments

In a new Science study, researchers present ESM3, a protein language model that enables the programmed generation of protein structure and sequence in response to user prompts. Learn more: scim.ag/40l2z3J

submitted 1 day ago • 0 comments

Rare disease gene association discovery in the 100,000 Genomes Project @nature.com www.nature.com/articles/s41...

submitted 1 day ago • 0 comments

A compendium of human gene functions derived from evolutionary modelling https://www.nature.com/articles/s41586-025-08592-0 🧬🖥️🧪

submitted 1 day ago • 0 comments

📣 New from @ryandhindsa.bsky.social & co! 📄Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes

submitted 1 day ago • 1 comment

Fascinating day @cpmoxford.bsky.social yesterday discussing genome sequencing in newborn screening. Lots of complexities, loads of new ideas, and lovely to see so many colleagues! Thanks @alucassen.bsky.social @rachel-horton.bsky.social and all the organisers.

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I'm delighted to present our nationwide effort to identify genetic determinants of child health and development in Japan. Preprint: www.medrxiv.org/content/10.1...

submitted 1 day ago • 1 comment

Roche SBX preprint out www.biorxiv.org/content/10.1...

submitted 2 days ago • 0 comments

MYBPC3 (c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modeling https://www.medrxiv.org/content/10.1101/2025.02.17.25321993v1

submitted 3 days ago • 0 comments

Have you guys reread Washington's Farewell Address lately? In keeping with tradition, a Republican senator read this in legislative session earlier this week.

submitted 4 days ago • 2 comments

Genome modeling and design across all domains of life with Evo 2 https://www.biorxiv.org/content/10.1101/2025.02.18.638918v1

submitted 5 days ago • 0 comments

Happy to share a new preprint, to which I provided a minor contribution. Using genetic data from ~100k human embryos, we found ~1k that were haploid or triploid. We describe a thorough characterization of these embryos, with many interesting findings 🧵 1/9 www.biorxiv.org/content/10.1...

submitted 9 days ago • 1 comment

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...

submitted 9 days ago • 1 comment

A massive genomic exploration of drug targets 🧬💊 👉phenotypic data from UK Biobank, FinnGen, MVP (N>1M) for 2,000 diagnoses 👉gene expression data from GTEx & eQTLGen 👉proteomic data from deCODE, ARIC & Fenland

submitted 12 days ago • 1 comment

submitted 13 days ago • 1 comment

Check out our work, where we discover how receptor GPCR senses pH! We solved a longstanding question by developing foundational GPCR DMS tech dev + structural bio! Led by brilliant PhD student @matthewkhoward.bsky.social and Nick Hoppe w/ @amanglik.bsky.social! www.cell.com/cell/fulltex...

submitted 51 days ago • 3 comments

Integrative Analysis of Drug-Gene Expression Signatures in Human Pluripotent Stem Cells Identifies Novel Drug Candidates for ALS and Monogenic Diseases https://www.biorxiv.org/content/10.1101/2025.02.04.636445v1

submitted 19 days ago • 0 comments

Validating data from Multiplex Assays of Variant Effect (MAVEs): A CanVIG-UK National Survey of NHS Clinical Scientists https://www.medrxiv.org/content/10.1101/2025.02.07.25321851v1

submitted 19 days ago • 0 comments

Part one of a collaboration with @3blue1brown.bsky.social on presenting the mathematics of the cosmic distance ladder in an accessible fashion.

submitted 19 days ago • 2 comments

RUNX2 promotes fibrosis via an alveolar-to-pathological fibroblast transition @nature.com www.nature.com/articles/s41...

submitted 22 days ago • 0 comments

Our paper led by J. Shin & A. Small evaluating the longitudinal penetrance of HCM alleles in the Mass General Brigham Biobank www.sciencedirect.com/science/arti... @jaccjournals.bsky.social #JACCAdv @broadinstitute.org @cgm-mgh.bsky.social @mgbresearch.bsky.social

submitted 22 days ago • 2 comments

Genome-wide association study of neuropathic pain phenotypes implicates loci involved in neural cell adhesion, channels, collagen matrix formation and immune regulation. https://www.medrxiv.org/content/10.1101/2025.02.04.25320393v1

submitted 21 days ago • 0 comments

The "Lean for Mathematicians" workshop, aimed at training graduate students and postdocs in the use of the Lean proof assistant language for mathematics, runs June 16-27 2025 and is currently taking applications. sites.google.com/view/simonsl...

submitted 22 days ago • 1 comment

Mendelian randomization (MR) has been criticized due to a flood of papers based on the output of a single R command. But MR can offer valuable insights into disease etiology and can be really fun Some interesting MR applications in examples from our work over the years 🧵 1/17

submitted 25 days ago • 1 comment

Mapping variant effects for a healthier future! Explore our 2024 #AnnualReport. From membership growth to global collaborations, discover how we're advancing genomics and making a difference #VariantEffectMapping www.varianteffect.org/annual-reports

submitted 26 days ago • 0 comments

“The distribution of highly deleterious variants across human ancestry groups”. Preprint with Anastasia Stolyarova and @gcbias.bsky.social: www.biorxiv.org/content/10.1...

submitted 25 days ago • 1 comment

Haplotype rather than single causal variants effects contribute to regulatory gene expression associations in human myeloid cells https://www.biorxiv.org/content/10.1101/2025.01.30.635675v1

submitted 27 days ago • 0 comments

"Streamlining Large-Scale Genomic Data Management: Insights from the UK Biobank Whole-Genome Sequencing Data" The manuscript argues for >1000x reduction in storage requirement for whole-genome data compared to VCF. Such tools are becoming increasingly important. www.medrxiv.org/content/10.1...

submitted 28 days ago • 2 comments

Our first accepted paper in 2025: 🚀 Introducing MorphoDiff: Our new diffusion-based generative pipeline for high-resolution cellular morphology prediction, guided by perturbation signals, now accepted at ICLR 2025!

submitted 35 days ago • 1 comment

An increasing number of papers is emerging from the Human Phenotype Project. 👉It is a very rich dataset with serial deep phenotyping assessments for 10,000 participants 👉Latest paper explores associatons of 448 sleep traits from apnea test monitoring with other phenotypes.

submitted 31 days ago • 1 comment

A new technique for genome-wide imaging screens called PERISCOPE could help scientists understand the connections between genes and traits. @drannecarpenter.bsky.social @naturemethods.bsky.social #Science

submitted 31 days ago • 1 comment

Detecting and avoiding homology-based data leakage in genome-trained sequence models www.biorxiv.org/content/10.1...

submitted 31 days ago • 0 comments

Modern GWAS can identify 1000s of significant hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm very excited to present our new work combining associations and Perturb-seq to build interpretable causal graphs! A 🧵

submitted 32 days ago • 6 comments

Very proud of this new study from the lab! 🌟We identified a novel lncRNA, FAM151B-DT, that is disrupted across neurodegenerative diseases. www.medrxiv.org/content/10.1...

submitted 34 days ago • 1 comment

Resolution of a human super-enhancer by targeted genome randomisation https://www.biorxiv.org/content/10.1101/2025.01.14.632548v1 🧬🖥️🧪

submitted 34 days ago • 0 comments

📣Excited to share our paper in Nature Genetics! rdcu.be/d7mo0 Do plasma proteins mediate obesity’s effect on CAD risk? →Using two-step proteome-wide MR, domain-aware MR, epigenomics & scRNA-seq, we prioritized endotrophin, cleaved from COL6A3, as a mediator & potential therapeutic target. A 🧵↓

submitted 34 days ago • 2 comments

In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease https://www.nature.com/articles/s41588-024-02054-5 🧬🖥️🧪

submitted 36 days ago • 0 comments

🚨 Preprint update! We expanded our study on parent-of-origin effects with new findings from the MoBa cohort, now leveraging up to 265,000 individuals! Discover fresh insights into the genetic architecture of early growth! Updated preprint: www.medrxiv.org/content/10.1...

submitted 37 days ago • 1 comment

Nice highlighting of @taylor-mighell.bsky.social's GPCR pharmacochaperone preprint by @dereklowe.bsky.social @science.org www.biorxiv.org/content/10.1...

submitted 39 days ago • 0 comments

New study in NEJM examines the link between APOL1 gene variants and CKD in West Africans. APOL1 variants are known CKD risk factors in Black Americans, but data from West Africa has been limited. This study analyzed 8,355 participants from Ghana & Nigeria.🧪 www.nejm.org/doi/full/10....

submitted 39 days ago • 2 comments

After a long wait, our paper is out! We show that differences in learning between the sexes are modulated by the NPY receptor, which gates sensory perception. Great work by PhD student, soon to be Dr, Sonu Kurien www.nature.com/articles/s41...

submitted 41 days ago • 7 comments

Modulation by NPY/NPF-like receptor underlies experience-dependent, sexually dimorphic learning www.nature.com/articles/s41...

submitted 42 days ago • 0 comments

A triad of somatic mutagenesis converges in self-reactive B cells to cause a virus-induced autoimmune disease @cp-immunity.bsky.social www.cell.com/immunity/ful...

submitted 42 days ago • 0 comments

I dislike the name of the instrument being in the title, but otherwise this is amazing. Over 5,000 proteins from one (large) A549 cell? At 50 cells/day? Ain't cheap in $$/cell but 2-fold quan appears detectable in the sub nanogram peptide load range?? proteomicsnews.blogspot.com/2025/01/up-t...

submitted 42 days ago • 2 comments

Exciting news 📃🧬🔬 Today we report on the dynamics of a fascinating class of molecular motors, so-called SMC proteins in @cp-cell.bsky.social doi.org/10.1016/j.ce...

submitted 42 days ago • 1 comment

I started working on genetic therapies for Mendelian disease in 2000 - and in the subsequent 25 years have never seen a disease where the molecular aetiology has undergone as giant an "OH WOW" moment as this. www.cell.com/cell/fulltex...

submitted 41 days ago • 4 comments

Massively parallel reporter assays (MPRAs) testing >680,000 sequences combined with machine learning to improve regulatory element & variant effect prediction. Amazing work by @vagar.bsky.social, Fumitaka Inoue, @jshendure.bsky.social and many others as part of ENCODE. www.nature.com/articles/s41...

submitted 43 days ago • 1 comment

@anusri.bsky.social first author & developer of ChromBPNet is looking for opportunities in industry in ML for bio/genomics. She is an excellent rigorous scientist (as u can see from the paper). Very strongly recommend her. Plz reach out to her if u have openings. Plz forward.

submitted 45 days ago • 3 comments

Variant effects depend on polygenic background: experimental, clinical, and evolutionary implications www.biorxiv.org/content/10.1...

submitted 47 days ago • 0 comments