Josh Weinstock
@joshweinstock.bsky.social
Assistant Professor in the Department of Human Genetics at Emory University. Statistical genetics and genomics + genetic epidemiology of somatic mosaicism.
weinstocklab.org
weinstocklab.org
Pinned
Josh Weinstock
@joshweinstock.bsky.social
· Oct 14
Genome-wide characterization of clonal hematopoiesis reveals extensive non-coding putative driver mutations
As humans age, we acquire somatic mutations in our blood, leading to clonal hematopoiesis (CH). Despite the prevalence of clonal hematopoiesis (CH) in aged individuals, recent searches for selective s...
www.medrxiv.org
What happens if you search the genomes of ~490K adults for variants that associate with age at blood draw? We actually did this crazy idea, using the UKB WGS (from peripheral blood).
Turns out this 'discovers' classic clonal hematopoiesis drivers and more 🧵👇
www.medrxiv.org/content/10.1...
#ASHG
Turns out this 'discovers' classic clonal hematopoiesis drivers and more 🧵👇
www.medrxiv.org/content/10.1...
#ASHG
Reposted by Josh Weinstock
How do GWAS and rare variant burden tests rank gene signals?
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
Specificity, length and luck drive gene rankings in association studies - Nature
Genetic association tests prioritize candidate genes based on different criteria.
www.nature.com
November 7, 2025 at 12:05 AM
How do GWAS and rare variant burden tests rank gene signals?
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
What happens if you search the genomes of ~490K adults for variants that associate with age at blood draw? We actually did this crazy idea, using the UKB WGS (from peripheral blood).
Turns out this 'discovers' classic clonal hematopoiesis drivers and more 🧵👇
www.medrxiv.org/content/10.1...
#ASHG
Turns out this 'discovers' classic clonal hematopoiesis drivers and more 🧵👇
www.medrxiv.org/content/10.1...
#ASHG
Genome-wide characterization of clonal hematopoiesis reveals extensive non-coding putative driver mutations
As humans age, we acquire somatic mutations in our blood, leading to clonal hematopoiesis (CH). Despite the prevalence of clonal hematopoiesis (CH) in aged individuals, recent searches for selective s...
www.medrxiv.org
October 14, 2025 at 9:27 PM
What happens if you search the genomes of ~490K adults for variants that associate with age at blood draw? We actually did this crazy idea, using the UKB WGS (from peripheral blood).
Turns out this 'discovers' classic clonal hematopoiesis drivers and more 🧵👇
www.medrxiv.org/content/10.1...
#ASHG
Turns out this 'discovers' classic clonal hematopoiesis drivers and more 🧵👇
www.medrxiv.org/content/10.1...
#ASHG
Reposted by Josh Weinstock
Exciting updates!!
(1) I just opened my lab at Boston Children’s Hospital (Harvard-affiliated)
(2) I’m hiring a postdoc focused on integrating GWAS and functional genomic data. Reach out if you’re interested or connect at ASHG next week!
(3) Learn more at stroberlab.com
(1) I just opened my lab at Boston Children’s Hospital (Harvard-affiliated)
(2) I’m hiring a postdoc focused on integrating GWAS and functional genomic data. Reach out if you’re interested or connect at ASHG next week!
(3) Learn more at stroberlab.com
Strober Lab
The Strober lab is a computational group at Boston Children's Hospital (a Harvard Medical School affiliated hospital) focused on developing statistical and machine learning tools applied to human gene...
stroberlab.com
October 7, 2025 at 6:55 PM
Exciting updates!!
(1) I just opened my lab at Boston Children’s Hospital (Harvard-affiliated)
(2) I’m hiring a postdoc focused on integrating GWAS and functional genomic data. Reach out if you’re interested or connect at ASHG next week!
(3) Learn more at stroberlab.com
(1) I just opened my lab at Boston Children’s Hospital (Harvard-affiliated)
(2) I’m hiring a postdoc focused on integrating GWAS and functional genomic data. Reach out if you’re interested or connect at ASHG next week!
(3) Learn more at stroberlab.com
Reposted by Josh Weinstock
Excited for a major milestone in our efforts to map enhancers and interpret variants in the human genome:
The E2G Portal! e2g.stanford.edu
This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues.
Uses cases 👇
1/
The E2G Portal! e2g.stanford.edu
This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues.
Uses cases 👇
1/
September 18, 2025 at 4:14 PM
Excited for a major milestone in our efforts to map enhancers and interpret variants in the human genome:
The E2G Portal! e2g.stanford.edu
This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues.
Uses cases 👇
1/
The E2G Portal! e2g.stanford.edu
This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues.
Uses cases 👇
1/
Reposted by Josh Weinstock
I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:
Beneath the surface of the sum
When genetic interactions matter and when they don't
open.substack.com
August 27, 2025 at 8:41 PM
I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:
Really excited to share our new PRS method, developed with @aprilkim.bsky.social and @alexisbattle.bsky.social ! Our approach is to use a lot of recently developed functional annotations to better estimate the weights of the SNPs.
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Polygenic prediction of phenotypes with a neural empirical Bayes approach
Polygenic risk scores (PRS) estimate the expected value of a phenotype based on individual genotypes. Although statistical approaches for calculating PRS have advanced considerably in recent years, fe...
www.medrxiv.org
July 22, 2025 at 9:25 PM
Really excited to share our new PRS method, developed with @aprilkim.bsky.social and @alexisbattle.bsky.social ! Our approach is to use a lot of recently developed functional annotations to better estimate the weights of the SNPs.
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Reposted by Josh Weinstock
Happy to share our work characterizing functional rare SVs in rare diseases with long-read genome sequencing and transcriptomic outlier data: genome.cshlp.org/content/earl...
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms
genome.cshlp.org
March 26, 2025 at 2:30 PM
Happy to share our work characterizing functional rare SVs in rare diseases with long-read genome sequencing and transcriptomic outlier data: genome.cshlp.org/content/earl...
Sharing some of our lecture slides on statistical genetics! 🧬
Co-taught with Mike Epstein, Dave Cutler, Karen Conneely, Jingjing Yang, Jian Hu.
Mendelian randomization: weinstocklab.org/lecture_slid...
Biobank scale GWAS methods: weinstocklab.org/lecture_slid...
Hope they're helpful!
Co-taught with Mike Epstein, Dave Cutler, Karen Conneely, Jingjing Yang, Jian Hu.
Mendelian randomization: weinstocklab.org/lecture_slid...
Biobank scale GWAS methods: weinstocklab.org/lecture_slid...
Hope they're helpful!
March 5, 2025 at 11:31 PM
Sharing some of our lecture slides on statistical genetics! 🧬
Co-taught with Mike Epstein, Dave Cutler, Karen Conneely, Jingjing Yang, Jian Hu.
Mendelian randomization: weinstocklab.org/lecture_slid...
Biobank scale GWAS methods: weinstocklab.org/lecture_slid...
Hope they're helpful!
Co-taught with Mike Epstein, Dave Cutler, Karen Conneely, Jingjing Yang, Jian Hu.
Mendelian randomization: weinstocklab.org/lecture_slid...
Biobank scale GWAS methods: weinstocklab.org/lecture_slid...
Hope they're helpful!
Reposted by Josh Weinstock
We have multiple postdoc positions available in my group at NYU. Join us if you're interested in complex trait genetics and biology. More information about the lab on our website: mostafavilab.org
Home | Mostafavi Lab
mostafavilab.org
June 1, 2024 at 1:43 PM
We have multiple postdoc positions available in my group at NYU. Join us if you're interested in complex trait genetics and biology. More information about the lab on our website: mostafavilab.org
Reposted by Josh Weinstock
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1
December 16, 2024 at 10:33 AM
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1
Reposted by Josh Weinstock
Excited to see our study on genetic regulation in heterogeneous differentiating cultures out in final form!
www.cell.com/cell-genomics/fulltext/S2666-979X(24)00330-6
www.cell.com/cell-genomics/fulltext/S2666-979X(24)00330-6
Cell type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures
Popp et al. generate dozens of cell types from 53 human iPSC lines in order to characterize
the dynamic genetic regulation of gene expression across early stages of cellular
differentiation. Accessing...
www.cell.com
December 4, 2024 at 2:31 AM
Excited to see our study on genetic regulation in heterogeneous differentiating cultures out in final form!
www.cell.com/cell-genomics/fulltext/S2666-979X(24)00330-6
www.cell.com/cell-genomics/fulltext/S2666-979X(24)00330-6
I'm developing a pipeline to call CHIP mutations in UK Biobank using the DNA Nexus RAP that is fast/cheap/reproducible. Initial results are promising; calls looks reasonable and cost to do this across all of UKB is likely < 500$.
Feel free to DM if of interest.
Feel free to DM if of interest.
November 22, 2024 at 10:17 PM
I'm developing a pipeline to call CHIP mutations in UK Biobank using the DNA Nexus RAP that is fast/cheap/reproducible. Initial results are promising; calls looks reasonable and cost to do this across all of UKB is likely < 500$.
Feel free to DM if of interest.
Feel free to DM if of interest.