mrivas03.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

Excited to finally share that our paper looking at the effect of rare non-coding variants using WGS on circulating protein levels in the UKB has been released in Nature Genetics @naturegenet.bsky.social! We now analyse the full 3,000 circulating proteins in all 50,000 individuals rdcu.be/ea16i

submitted 3 days ago • 1 comment

Check out our web tool for searching for interactors of your favorite cell surface protein, developed by undergrad Pinyu Liao and postdoc postdoc Brendan Floyd @stanford-chemh.bsky.social cellsurfacemap.org

submitted 7 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

music.apple.com/us/album/ele...

submitted 11 days ago • 0 comments

Spatial proteomics in human carotid atherosclerotic plaques (N=118). A great weekend read❗️ 👉subregions isolated with microdissection (lipid core, fibrous cap, tunica media) 👉mass-spec proteomics 👉proteome-defined subclusters across subregions 👉biological enrichment across subclusters 1/2

submitted 12 days ago • 1 comment

Indeed. Index SNP is missed with ceiling

submitted 15 days ago • 1 comment

Our paper on Efficient regression for population-scale genome sequencing studies is published and online 1.5 minutes on a single machine academic.oup.com/bioinformati...

submitted 15 days ago • 1 comment

Fantastic

submitted 17 days ago • 0 comments

🎇Our new paper in @ScienceMagazine : Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants. @Hongbo919Liu science.org/doi/10.1126/...

submitted 20 days ago • 10 comments

New in the February 6, 2025, issue of NEJM: Iptacopan in IgA Nephropathy (APPLAUSE-IgAN phase 3 trial) nej.md/3UmrOkh Atrasentan in Patients with IgA Nephropathy (ALIGN phase 3 trial) nej.md/3NzvISW Liraglutide for Children with Obesity (SCALE Kids phase 3a trial) nej.md/3MBP1uc #MedSky

submitted 21 days ago • 1 comment

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

This is a great write up by Bob Carpenter (read the PDF document)

submitted 22 days ago • 0 comments

music.apple.com/us/album/i-f...

submitted 23 days ago • 0 comments

Generalized linear neural network models statmodeling.stat.columbia.edu/2025/02/04/g...

submitted 23 days ago • 0 comments

Happy to see this online. We assess the genetic contribution to disease progression (as opposed to susceptibility). Time-to-event models are quite relevant here.

submitted 24 days ago • 0 comments

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank https://www.medrxiv.org/content/10.1101/2025.01.31.25321488v1

submitted 25 days ago • 0 comments

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 28 days ago • 0 comments

New in the January 30, 2025, issue of NEJM: Tirzepatide for Heart Failure and Obesity (SUMMIT trial) nej.md/4hRGaTY Continuation of Oral Anticoagulation during TAVI (POPular PAUSE TAVI trial) nej.md/3XllHys Lentiviral Gene Therapy for Hemophilia A nej.md/3Vk5xUA #MedSky

submitted 28 days ago • 1 comment

Two patients with congenital generalized lipodystrophy type 1 due to a variant in AGPAT2 (c.589-2A→G) who had been receiving insulin and metreleptin were switched to tirzepatide and were successfully weaned off other therapy. Read the full correspondence: nej.md/40Rznmz #MedSky #EndoSky

submitted 28 days ago • 0 comments

😮

submitted 30 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 33 days ago • 6 comments

Unified meta regression models for rare variant association studies https://www.biorxiv.org/content/10.1101/2025.01.23.634522v1

submitted 33 days ago • 0 comments

Happy to share our manuscript “Unified meta regression models for rare variant association studies” www.biorxiv.org/content/10.1...

submitted 33 days ago • 1 comment

Abstract Submission Deadline for ESHG 2025 is on January 30, 2025 at 23:59 CET and it is swiftly approaching. Please apply! Milan is waiting for you.

submitted 34 days ago • 1 comment

ESHG Abstract Deadline Reminder! The Submission Deadline for #ESHG2025 is in a week (Jan 30)! Please join us this spring (May 24-27) in Milan, Italy, for another fun and exciting ESHG conference! Learn more at 2025.eshg.org Please retweet. #Genetics #ScienceConference #ESHG #ESHG2025

submitted 34 days ago • 0 comments

Fantastic!

submitted 36 days ago • 0 comments

Fantastic new work from @sethasharp and @annagloyn.bsky.social . T1D GRS for the clinic may be getting close !