Joe Pickrell @joe_pickrell
Statistical geneticist. CEO @gencove. gencove.com New York, NY Joined June 2011-
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🎉📣 Latest preprint from the lab: Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction medrxiv.org/content/10.110… Led by the exceptional @RXiang5 (now head of comp bio at AgriBio @VicGovAg)!
See you in Boston next week for @bioitworld! Join us in the Digital BioPharma Symposium on Mon Apr 15th 9:10am to hear from @joe_pickrell as he delves into the transformative role of genomics in drug development. Let us know you'll be there: bit.ly/bio-itworld
We're excited to announce a new collaboration with Eurofins Genomics Agrigenomics Europe to usher in a new era of genotyping in plant & animal genomics by delivering high-throughput and cost-effective low-pass WGS through the Gencove platform. Read more: bit.ly/49tiWxV
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
Frequency of stair climbing in la… 🇬🇧 Description biobank.ctsu.ox.ac.uk/crystal/field.… ⬇️ Download pan-ukb-us-east-1.s3.amazonaws.com/sumstats_flat_… 🧬 Genetic correlations ukbb-rg.hail.is/rg_summary_943… 👪 Heritability 0.04 [0.03, 0.04] nealelab.github.io/UKBB_ldsc/h2_s… 📊 GWAS top hit 11:27744859:T:C
Last chance to register for our webinar with @ValoHealth, tomorrow Wed April 3rd, 12pm ET. We'll be discussing how the unique population history of the Kahn Sagol Maccabi Biobank provides an opportunity for groundbreaking drug discovery. Register now: bit.ly/4aa7eJo
Attending Bio-IT World Expo next month? Get in touch to meet us there: bit.ly/bio-itworld. Don't miss our talk Mon Apr 15th 9:10am, where @joe_pickrell will share how cutting-edge genomic technologies are being applied across the entire drug development pipeline.
🧬💧 The genetics of self-reported water intake Having fun 3 #RStats packages: - DUNE theme from {ThemePark} - Manhattan plot from {geni.plots} - Loci + nearest genes from {gwasRtools} - Using public data from GWAS Atlas (UK Biobank EUR)
So here’s the deal on “artificial wombs” 🧵
Infertility affects 1 in 6 couples across the globe, but its cause remains unknown in over 30% of cases 😔 In our latest work with @ceclindgren, we discover rare and common genetic variants associated with infertility in 🇬🇧🇩🇰🇪🇪🇫🇮🇮🇸 medrxiv.org/content/10.110… Thread ⬇️
I remember reading this in 2022 as a preprint. Glad to see this work by @StrauszSatu, @ImmunoFever, @HannaMOllila and team in published form. This is a nice example of a low-hanging fruit that didn't get picked early because no one studied the phenotype. Performing a GWAS of Lyme…
@joe_pickrell There is a published (similar) estimate here: nature.com/articles/s4146…
x.com/sarahzhang/sta… https://t.co/lRwrq2fNBS
I have a story in @TheAtlantic today that I have been thinking about for years. I've written a lot about shocking discoveries from 23andMe and AncestryDNA tests, but several years ago, I heard about a support group for what might be the most shocking discovery of all.
Imagine knowing this risk at birth instead of being caught by surprise in the ICU
Short Reads, Deep Insights: Our latest blog dives into a recent preprint from the Gencove and Boehringer Ingelheim teams, and how they leveraged a multi-ancestry long-read panel to impute structural variants from short-read sequencing data, read here: bit.ly/3TCP0dO
Is #exome sequencing just for kids? In our study we find that a whopping 25% of young adults (18-40y) in the ICU had a Mendelian #genetic diagnosis identified by exome sequencing. This could seriously shake things up for patient receiving #CritcalCare medrxiv.org/content/10.110…
Surprising, to me at least, observation that 25% of young adults (18-40 years old) admitted to the ICU for non-'external' reasons have a major genetic risk factor medrxiv.org/content/10.110…
UPCOMING WEBINAR: Join us Wednesday, April 3rd, at 12pm ET to hear from Olivia Sabik (Valo Health), she'll discuss how the unique population history of the Kahn Sagol Maccabi Biobank provides an opportunity for groundbreaking drug discovery. Register now: bit.ly/4aa7eJo
Last year, the Make-a-Wish Foundation announced that kids with cystic fibrosis would no longer automatically qualify for a wish. This was, actually, a good thing—a great thing even!
Veera Rajagopal @doctorveera
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16K Followers 3K Following Genomics PhD 🧬 @sangerinstitute | Somatic Evolution in Aging & Cancer | long- form https://t.co/ipFMYGuR84 | Emergent Ventures | views my ownOne of my most fringe urbanist opinions is that the widespread prevalence of bribery kept Chicago affordable Want to build in SF? Do 30 community meetings, negotiate, see it get scaled back… Want to build in Chicago? Say five Hail Marys and pay this dude $10k
There's millions more people like this in South East Asia who steal like this every day I met a girl in SEA once and her family was in parliament and all her houses (like big 10 floor condos) and land were donated to her family by big companies to pass laws It does speed up…
@joe_pickrell @vsbuffalo A shame you didn't want to go ahead with this as an exchange in @PLOSMedicine @joe_pickrell :) biorxiv.org/content/10.110… Which if it had gone ahead would have echoed academic.oup.com/ije/article/45…
In a recent project, FTA cards were used to collect canine saliva samples to perform lpWGS. While PCR and amplicon sequencing have been performed, lpWGS of saliva on FTA cards has not. Read on to see how the Gencove lab team tackled the challenge: bit.ly/3VANNoW
🧵This preprint caught my eye because it hits at a core question we have to answer at @OrchidInc — “How much rare disease can WGS embryo screening actually catch?” The methodology here gives us a cool data point: 52% of diagnosed variants, representing 13% of YA ICU admissions.
Surprising, to me at least, observation that 25% of young adults (18-40 years old) admitted to the ICU for non-'external' reasons have a major genetic risk factor medrxiv.org/content/10.110…
@joe_pickrell @eyeslasho (incidentally, same story of "many short rohs" for 2 out of the 3 self-id indian cases with f_roh > 0.2). this is all by the clark 2019 methodology. unfortunately, you'll have to take me on my word, but happy to answer any technical questions to prove i'm not just spouting bs
@joe_pickrell @eyeslasho i found the self-id "white british" to be ~1/8000. there are 2 pakistani cases with f_roh >0.175 *BUT* both are <0.2 and have short roh segments, which strongly suggests repeated cousin marriage/unlucky 2nd-degree as the cause (clear in one case, possible in the other).
@joe_pickrell @eyeslasho this is a very fair point and i wish i knew of a good reference for this. unfortunately i am not aware of anyone (least of all me) who's been brave enough to publish an analysis of "which ethnicity is implied to commit the most family sexual abuse". i'll say that in uk biobank -
@joe_pickrell There is a published (similar) estimate here: nature.com/articles/s4146…
@joe_pickrell @sarahzhang Hey Joe! Just dropped you a DM with my response! Better like this hahaha
POV you’re about to have the best coffee of your life. A sweet elderly waitress in a teal dress comes around with a coffee pot to give you a refill every 5 minutes. It’s the year 2004 and you’re out to lunch with your family of 5. “What’s the damage?“ you say as you flip over the…
Before Starbucks America drank watered down diner coffee and folgers. Today they serve milkshakes and increase the obesity rate. But they did raise the coffee game in America to a respectable level
@joe_pickrell It was surprising to us as well! It's going to be super important to replicate our work in other health systems, specifically with prospective studies to determine if/how rapid genetic diagnosis would change management/outcomes for critically ill adults!
@ShaiCarmi @joe_pickrell @doctorveera Hi Shai, It is an independent effort. We weren't aware of their study medrxiv.org/content/10.110…
@doctorveera @joe_pickrell Hi Veera, We know of a couple but don't have much info on timelines or what the major focus of the manuscripts is (e.g. method development re SV calling, SV translation, biobank sequencing).
Every single day since birth I had the choice of spending hours dedicated to my lungs, or forgo it (to my own detriment) to feel like I had a normal life.. Antibiotics, daily nebulizers, lung PT, a laundry list of pills and intermittent hospitalizations for “tune ups”. I…
“A child born with cystic fibrosis in the ’50s could expect to live until age 5. In the ’70s, age 10. In the early 2000s, age 35. … Today, those who begin taking Trifakta in early adolescence, a recent study projected, can expect to survive to age 82.5.” theatlantic.com/magazine/archi…
Excited to announce our investment in @GetTinyHealth , bringing the highest quality gut microbiome sequencing and analysis to families everywhere. @cherylyeoh it's a privilege to be on this journey with you and your incredible team! medium.com/speroventures/…
Olink job applicants
Relax Brent. These enthusiastic volunteers were all very fit young Norwegians. Scandinavians seem unusually keen on this sort of thing. Especially in a sport sciences institute!! Descendants of Vikings!!
@BioMath I am working on health-system and country level models for precision medicine now, and what floors me is that the primary reason these don't work today is that physicians don't follow the guidelines or order the tests, even when it's free and they know🤯
@joe_pickrell Yes, it should be feasible with PCA, as @privefl nicely did for the UKB: academic.oup.com/bioinformatics… and cell.com/ajhg/fulltext/… With IBD: bmcbiol.biomedcentral.com/articles/10.11… But for just identifying the position of the AJ blob, I think 2-3 pathogenic variants would take much less effort.
Glad I retired from population structure visualization
@joe_pickrell It's wild to think we're heading towards a world where generating sequence data could become as common as streaming music. Decreasing costs might impact routine RNA-seq even more, and we could soon be talking about RNA-Seq check-ups.