📣Excited to share my last postdoc paper with
@soumya-boston.bsky.social on eQTL mechanisms depending on where the RNA is in the cell! @broadinstitute.org @harvardmed.bsky.social
TL;DR:Early RNA eQTL variants in the nucleus and late RNA eQTL variants in the cytosol have distinct molecular mechanism🧵
@soumya-boston.bsky.social on eQTL mechanisms depending on where the RNA is in the cell! @broadinstitute.org @harvardmed.bsky.social
TL;DR:Early RNA eQTL variants in the nucleus and late RNA eQTL variants in the cytosol have distinct molecular mechanism🧵
February 27, 2025 at 2:21 AM
📣Excited to share my last postdoc paper with
@soumya-boston.bsky.social on eQTL mechanisms depending on where the RNA is in the cell! @broadinstitute.org @harvardmed.bsky.social
TL;DR:Early RNA eQTL variants in the nucleus and late RNA eQTL variants in the cytosol have distinct molecular mechanism🧵
@soumya-boston.bsky.social on eQTL mechanisms depending on where the RNA is in the cell! @broadinstitute.org @harvardmed.bsky.social
TL;DR:Early RNA eQTL variants in the nucleus and late RNA eQTL variants in the cytosol have distinct molecular mechanism🧵
Very excited to share new work from my PhD on a new software package for eQTL mapping: quasar. The quasar software package is a C++ program designed to provide a flexible and efficient eQTL mapping. www.medrxiv.org/content/10.1...
Flexible and efficient count-distribution and mixed-model methods for eQTL mapping with quasar
Identifying genetic variants that affect gene expression, expression quantitative trait loci (eQTLs), is a major focus of modern genomics. Today, various methods exist for eQTL mapping, each using dif...
www.medrxiv.org
July 22, 2025 at 10:15 AM
Very excited to share new work from my PhD on a new software package for eQTL mapping: quasar. The quasar software package is a C++ program designed to provide a flexible and efficient eQTL mapping. www.medrxiv.org/content/10.1...
Thrilled to share the second half of my PhD work here!
We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)
doi.org/10.1101/2025...
We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)
doi.org/10.1101/2025...
August 22, 2025 at 7:50 PM
Thrilled to share the second half of my PhD work here!
We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)
doi.org/10.1101/2025...
We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)
doi.org/10.1101/2025...
@kauralasoo.bsky.social starts his plenary talk #eshg2025 with their heroic effort of integrating eQTL studies (eQTL Catalogue, v7 42 studies, www.ebi.ac.uk/eqtl/Data_ac...). From personal experiences, this is an amazing resource!
Data access < eQTL Catalogue < EMBL-EBI
EMBL-EBI
www.ebi.ac.uk
May 26, 2025 at 7:10 AM
@kauralasoo.bsky.social starts his plenary talk #eshg2025 with their heroic effort of integrating eQTL studies (eQTL Catalogue, v7 42 studies, www.ebi.ac.uk/eqtl/Data_ac...). From personal experiences, this is an amazing resource!
Excited to share this preprint from first author Jon Rosen, a postdoctoral fellow in the @klmohlke.bsky.social lab and my lab. We examine eQTL study sample size and how this affects signal discovery and rates of colocalization with GWAS.
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Higher eQTL power reveals signals that boost GWAS colocalization
Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability...
www.biorxiv.org
August 18, 2025 at 12:18 PM
Excited to share this preprint from first author Jon Rosen, a postdoctoral fellow in the @klmohlke.bsky.social lab and my lab. We examine eQTL study sample size and how this affects signal discovery and rates of colocalization with GWAS.
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Placental cis-eQTL analysis identifies preeclampsia-dependent genetic regulation at promoters https://www.biorxiv.org/content/10.64898/2026.10.05.756656v1
October 7, 2026 at 2:32 PM
Placental cis-eQTL analysis identifies preeclampsia-dependent genetic regulation at promoters https://www.biorxiv.org/content/10.64898/2026.10.05.756656v1
Happy to share our new preprint from @sashagusevposts.bsky.social and @nmancuso.bsky.social labs! We introduce Mr. PEG, a framework integrating perturbational screens, eQTL, and GWAS data to identify mediating genes for complex traits. (1/n) www.medrxiv.org/content/10.6...
Integrating perturbational screens, eQTL, and GWAS data identifies mediating genes for complex traits
Most current GWAS-eQTL approaches prioritize genes whose mediating effects on complex traits act through cis-regulation, while trans-acting genes remain largely underexplored. Recent perturbational sc...
www.medrxiv.org
January 5, 2026 at 10:27 PM
Happy to share our new preprint from @sashagusevposts.bsky.social and @nmancuso.bsky.social labs! We introduce Mr. PEG, a framework integrating perturbational screens, eQTL, and GWAS data to identify mediating genes for complex traits. (1/n) www.medrxiv.org/content/10.6...
New method from our group for identifying disease-mediating genes using perturb-seq, eQTL, and GWAS data. Check out the thread:
Happy to share our new preprint from @sashagusevposts.bsky.social and @nmancuso.bsky.social labs! We introduce Mr. PEG, a framework integrating perturbational screens, eQTL, and GWAS data to identify mediating genes for complex traits. (1/n) www.medrxiv.org/content/10.6...
Integrating perturbational screens, eQTL, and GWAS data identifies mediating genes for complex traits
Most current GWAS-eQTL approaches prioritize genes whose mediating effects on complex traits act through cis-regulation, while trans-acting genes remain largely underexplored. Recent perturbational sc...
www.medrxiv.org
January 6, 2026 at 12:55 AM
New method from our group for identifying disease-mediating genes using perturb-seq, eQTL, and GWAS data. Check out the thread:
Good discussion & study-design recommendations in this new preprint by @mikelove.bsky.social @klmohlke.bsky.social & colleagues:
Higher eQTL power reveals signals that boost GWAS colocalization 🧪🧬
www.biorxiv.org/content/10.1...
Higher eQTL power reveals signals that boost GWAS colocalization 🧪🧬
www.biorxiv.org/content/10.1...
Higher eQTL power reveals signals that boost GWAS colocalization
Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability...
www.biorxiv.org
August 6, 2025 at 12:45 PM
Good discussion & study-design recommendations in this new preprint by @mikelove.bsky.social @klmohlke.bsky.social & colleagues:
Higher eQTL power reveals signals that boost GWAS colocalization 🧪🧬
www.biorxiv.org/content/10.1...
Higher eQTL power reveals signals that boost GWAS colocalization 🧪🧬
www.biorxiv.org/content/10.1...
Another Claude project: a static site that pulls in GWAS SNP data from ensemble, multiple public biobanks, open targets, gtex, eqtl catalog, and OMIM.
sashagusev.github.io/gwas_lookup/
sashagusev.github.io/gwas_lookup/
February 9, 2026 at 6:50 PM
Another Claude project: a static site that pulls in GWAS SNP data from ensemble, multiple public biobanks, open targets, gtex, eqtl catalog, and OMIM.
sashagusev.github.io/gwas_lookup/
sashagusev.github.io/gwas_lookup/
Delighted to share some wonderful work by our recent grad Matthew Aguirre on theoretical models of GRNs, and what eQTL data can teach us about these!
Thrilled to share the second half of my PhD work here!
We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)
doi.org/10.1101/2025...
We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/)
doi.org/10.1101/2025...
August 22, 2025 at 9:35 PM
Delighted to share some wonderful work by our recent grad Matthew Aguirre on theoretical models of GRNs, and what eQTL data can teach us about these!
🧬 New today!
📄 Higher eQTL power reveals signals that boost GWAS colocalization
🧑🤝🧑 @mikelove.bsky.social @klmohlke.bsky.social & colleagues
📄 Higher eQTL power reveals signals that boost GWAS colocalization
🧑🤝🧑 @mikelove.bsky.social @klmohlke.bsky.social & colleagues
Higher eQTL power reveals signals that boost GWAS colocalization
Rosen et al. quantify how eQTL study sample size influences signal discovery and GWAS
colocalization. Integrating evidence from recent eQTL studies, they show that limited
statistical power influences...
www.cell.com
March 4, 2026 at 3:40 PM
🧬 New today!
📄 Higher eQTL power reveals signals that boost GWAS colocalization
🧑🤝🧑 @mikelove.bsky.social @klmohlke.bsky.social & colleagues
📄 Higher eQTL power reveals signals that boost GWAS colocalization
🧑🤝🧑 @mikelove.bsky.social @klmohlke.bsky.social & colleagues
For those who don't know it, I really think the fivex #eqtl/ #sqtl browser is one of the most useful and intuitive tools when doing detective work on a new #gwas hit.
fivex.sph.umich.edu
Much thanks to all its creators & @kauralasoo.bsky.social & team for the upstream work on the eqtl catalogue.
fivex.sph.umich.edu
Much thanks to all its creators & @kauralasoo.bsky.social & team for the upstream work on the eqtl catalogue.
FIVEx: eQTL Browser
fivex.sph.umich.edu
March 28, 2025 at 1:38 PM
For those who don't know it, I really think the fivex #eqtl/ #sqtl browser is one of the most useful and intuitive tools when doing detective work on a new #gwas hit.
fivex.sph.umich.edu
Much thanks to all its creators & @kauralasoo.bsky.social & team for the upstream work on the eqtl catalogue.
fivex.sph.umich.edu
Much thanks to all its creators & @kauralasoo.bsky.social & team for the upstream work on the eqtl catalogue.
🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)
February 6, 2026 at 10:14 AM
🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)
👀 Absolute banger paper. Leveraging cattle/pig GWAS/eQTL to help explain the missing regulatory gap in humans. Consistent with previous works, selection makes identifying relevant eQTLs in humans challenging.
www.biorxiv.org/content/10.6...
www.biorxiv.org/content/10.6...
www.biorxiv.org
March 25, 2026 at 4:32 PM
👀 Absolute banger paper. Leveraging cattle/pig GWAS/eQTL to help explain the missing regulatory gap in humans. Consistent with previous works, selection makes identifying relevant eQTLs in humans challenging.
www.biorxiv.org/content/10.6...
www.biorxiv.org/content/10.6...
Want to learn more how to visualise splicing QTLs with the eQTL Catalogue Browser? Check out this short video tutorial:
www.youtube.com/watch?v=qS8c...
www.youtube.com/watch?v=qS8c...
December 15, 2024 at 7:35 AM
Want to learn more how to visualise splicing QTLs with the eQTL Catalogue Browser? Check out this short video tutorial:
www.youtube.com/watch?v=qS8c...
www.youtube.com/watch?v=qS8c...
Looking forward to presenting our work on characterizing eqtl architecture across ancestors and cells tomorrow at the Evolgenome seminar!
Huge thanks for the invite @lindakachuri.bsky.social
Huge thanks for the invite @lindakachuri.bsky.social
November 18, 2025 at 6:45 PM
Looking forward to presenting our work on characterizing eqtl architecture across ancestors and cells tomorrow at the Evolgenome seminar!
Huge thanks for the invite @lindakachuri.bsky.social
Huge thanks for the invite @lindakachuri.bsky.social
Working on trans-eQTL mapping with population-scale scRNA-seq? Meet LIVI, our latest framework that enables efficient trans-eQTL mapping at single-cell resolution across cohorts of hundreds to thousands of donors.
Preprint: doi.org/10.64898/202...
Summary in the 🧵 below by @danaivagiaki.bsky.social
Preprint: doi.org/10.64898/202...
Summary in the 🧵 below by @danaivagiaki.bsky.social
February 10, 2026 at 8:59 AM
Working on trans-eQTL mapping with population-scale scRNA-seq? Meet LIVI, our latest framework that enables efficient trans-eQTL mapping at single-cell resolution across cohorts of hundreds to thousands of donors.
Preprint: doi.org/10.64898/202...
Summary in the 🧵 below by @danaivagiaki.bsky.social
Preprint: doi.org/10.64898/202...
Summary in the 🧵 below by @danaivagiaki.bsky.social
Delighted to present Latent Interaction Variational Inference (LIVI), a framework for trans-eQTL mapping at single-cell resolution that I developed during my PhD together with colleagues from @steglelab.bsky.social 1/n
Mapping trans-eQTLs at single-cell resolution using Latent Interaction Variational Inference. https://www.biorxiv.org/content/10.64898/2026.02.04.703363v1
February 8, 2026 at 4:54 PM
Delighted to present Latent Interaction Variational Inference (LIVI), a framework for trans-eQTL mapping at single-cell resolution that I developed during my PhD together with colleagues from @steglelab.bsky.social 1/n
Excited to present our work on developing jaxQTL, a fast single-cell eQTL mapping tool that improves power and robustness in identifying sc-eQTLs using count-based models. See details in threads 🧵
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping
Population-scale single-cell transcriptomic technologies (scRNA-seq) enable characterizing variant effects on gene regulation at the cellular level (e.g., single-cell eQTLs; sc-eQTLs). However, existi...
www.medrxiv.org
January 27, 2025 at 6:29 PM
Excited to present our work on developing jaxQTL, a fast single-cell eQTL mapping tool that improves power and robustness in identifying sc-eQTLs using count-based models. See details in threads 🧵
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Consistent with recent findings by Rosen et al. (pubmed.ncbi.nlm.nih.gov/40799583/) that eQTLs detected at larger sample sizes (with more statistical power) converge on GWAS associations. The No. 1 rule in germline genetics is sample size is king!
Higher eQTL power reveals signals that boost GWAS colocalization - PubMed
Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability for other traits, as discovered in genome-wide association studies (GWAS). In particular, eQTL sign …
pubmed.ncbi.nlm.nih.gov
November 30, 2025 at 5:06 PM
Consistent with recent findings by Rosen et al. (pubmed.ncbi.nlm.nih.gov/40799583/) that eQTLs detected at larger sample sizes (with more statistical power) converge on GWAS associations. The No. 1 rule in germline genetics is sample size is king!
I'm very excited to be attending my first #ASHG25 this week! Come find me at poster board 1090F to talk about flexible and efficient eQTL mapping with quasar!
October 13, 2025 at 1:23 PM
I'm very excited to be attending my first #ASHG25 this week! Come find me at poster board 1090F to talk about flexible and efficient eQTL mapping with quasar!
Thrilled to see this out! A jax based glm for single cell eqtl mapping! See 👇for details! 🧬
Excited to present our work on developing jaxQTL, a fast single-cell eQTL mapping tool that improves power and robustness in identifying sc-eQTLs using count-based models. See details in threads 🧵
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping
Population-scale single-cell transcriptomic technologies (scRNA-seq) enable characterizing variant effects on gene regulation at the cellular level (e.g., single-cell eQTLs; sc-eQTLs). However, existi...
www.medrxiv.org
January 28, 2025 at 4:52 PM
Thrilled to see this out! A jax based glm for single cell eqtl mapping! See 👇for details! 🧬
1. 🚨New preprint: tinyurl.com/tenk10k-causal.
We explored causal effects of gene expression in immune cell types on complex traits and diseases by combining single-cell expression quantitative trait loci (sc-eQTL) mapping in 5M+ cells from 1,925 donors in TenK10K study and GWAS. 🧵
We explored causal effects of gene expression in immune cell types on complex traits and diseases by combining single-cell expression quantitative trait loci (sc-eQTL) mapping in 5M+ cells from 1,925 donors in TenK10K study and GWAS. 🧵
Single-cell genetics identifies cell type-specific causal mechanisms in complex traits and diseases
Genome-wide association studies (GWAS) have been instrumental in uncovering the genetic basis of complex traits. When integrated with expression quantitative trait loci (eQTL) mapping, they can elucid...
tinyurl.com
September 1, 2025 at 4:31 AM
1. 🚨New preprint: tinyurl.com/tenk10k-causal.
We explored causal effects of gene expression in immune cell types on complex traits and diseases by combining single-cell expression quantitative trait loci (sc-eQTL) mapping in 5M+ cells from 1,925 donors in TenK10K study and GWAS. 🧵
We explored causal effects of gene expression in immune cell types on complex traits and diseases by combining single-cell expression quantitative trait loci (sc-eQTL) mapping in 5M+ cells from 1,925 donors in TenK10K study and GWAS. 🧵