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Jose Alquicira Hernandez

@joseah.bsky.social
230 followers 79 following 12 posts

Postdoctoral fellow at Harvard Medical School and Brigham Women’s Hospital with Soumya Raychaudhuri. Statistical genetics | Single cell genomics | Immunogenomics

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Jose Alquicira Hernandez @joseah.bsky.social · 31/08/2026
1/11 We are excited to share Dynema, a new method for ​​efficient genome-wide mapping of reproducible, context-dependent eQTLs at true single-cell resolution w/ @soumya-boston.bsky.social and @aparnanathan biorxiv.org/content/10.6... tldr it finds reproducible eQTLs quickly and accurately!
biorxiv.org
Efficient genome-wide mapping of reproducible, context-dependent eQTLs at single-cell resolution
Single-cell technologies enable linking disease-risk variants to gene regulatory effects in specific cell-state contexts. However, most so called "single-cell eQTL" studies use a "pseudobulking" strat...
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Yoshihiko Tomofuji @ytomofuji.bsky.social · 05/08/2026
We are excited to share our latest preprint on surface protein QTL mapping & experimental fine-mapping of the CD40 autoimmune locus in B cells w/ @soumya-boston.bsky.social @broadinstitute.org @mgbresearch.bsky.social ! 🧬🧵👇 🔗 www.biorxiv.org/content/10.6...
biorxiv.org
Identifying the causal allele in the CD40 autoimmune locus enables discovery of context-specific trans-effects in B cells
Thousands of genetic variants are associated with autoimmune diseases, but causal variants, their mechanisms, and the pathogenic context in which they act are elusive. Knowledge of pathogenic contexts...
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dkotliar.bsky.social @dkotliar.bsky.social · 03/09/2025
Paper from me, Michelle Curtis, @soumya-boston.bsky.social and co out now in @natmethods.nature.com! We now call it starCAT instead of *CAT but the strategy is the same: Build a catalog of ~50 interpretable T cell gene expression programs + use them to interpret new data nature.com/articles/s41...
nature.com
Reproducible single-cell annotation of programs underlying T cell subsets, activation states and functions - Nature Methods
TCAT is a pipeline that can simultaneously capture gene expression programs related to T cell subsets and activation states for accurate T cell characterization.
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Soumya Raychaudhuri সৌম্য রায়চৌধুরী @soumya-boston.bsky.social · 18/08/2025
So excited to share our latest with Betty Diamond and many colleagues from the AMP RA/SLE consortium, NIAMS, and @niaidnews.bsky.social! A large-scale blood and tissue atlas of Lupus Nephritis! www.biorxiv.org/content/10.1...
biorxiv.org
A population-scale atlas of blood and tissue in lupus nephritis
Lupus nephritis (LN), a severe manifestation of Systemic lupus erythematosus (SLE), is a heterogeneous disease driven by diverse immune and tissue cell types. Current treatments of LN are non-specific...
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bioRxivpreprint @biorxivpreprint.bsky.social · 15/08/2025
A population-scale atlas of blood and tissue in lupus nephritis www.biorxiv.org/content/10.1101/202…
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Soumya Raychaudhuri সৌম্য রায়চৌধুরী @soumya-boston.bsky.social · 24/07/2025
So excited to share our latest study on defining the function of disease variants by editing single cells, and assuming them with CRAFT-seq! Special thanks to @zpmu.bsky.social and @baglaenkolab.bsky.social! @broadinstitute.org www.nature.com/articles/s41...
nature.com
Precisely defining disease variant effects in CRISPR-edited single cells - Nature
A plate-based assay called CRAFTseq has been developed that uses ‘multi-omic’ single-cell RNA sequencing and direct genotyping of CRISPR edits to test the functional effects of genetic variants o...
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Broad Institute @broadinstitute.org · 16/07/2025
Join us on Thursday, August 14 at 6 PM ET in Cambridge, MA – or online – for a Broad Discovery Series talk with @soumya-boston.bsky.social : “Arthritis, autoimmunity, and how the genome works.” Register: broadinstitute.swoogo.com/DiscoverySer...
talk poster
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Gerome Breen @psychgenomics.bsky.social · 17/06/2025
Excited about our new preprint: 1st successful genome-wide study of >61,000 panic attack and 29,000 panic disorder cases. www.medrxiv.org/content/10.1... We find 17 associations & evidence that peripheral neurons in eye, lungs and heart are involved in panic & other psychiatric disorders 1/n
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Mike Inouye @mikeinouye.bsky.social · 05/06/2025
📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores www.nature.com/articles/s41... Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.
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Maria Gutierrez-Arcelus @mariagtac.bsky.social · 24/05/2025
Do you have an interest in B cells and immune-mediated diseases? We generated a multiomics resource of human B cell activation and showed its utility for elucidating disease mechanisms. Check out our manuscript led by @vitoraguiar.bsky.social and Marcella Franco: www.medrxiv.org/content/10.1...
medrxiv.org
A multi-omics resource of B cell activation reveals genetic mechanisms for immune-mediated diseases
Most genetic variants that confer risk of complex immune-mediated diseases (IMD) affect gene regulation in specific cell types. Their target genes and focus cell types are often unknown, partially bec...
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Anna Cuomo @annasecuomo.bsky.social · 24/03/2025
📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬 www.medrxiv.org/content/10.1... 🧵👇 (1/n)
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Saori Sakaue @saorisakaue.bsky.social · 27/02/2025
📣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🧵
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Soumya Raychaudhuri সৌম্য রায়চৌধুরী @soumya-boston.bsky.social · 12/02/2025
Check out our latest from @yakirreshef.bsky.social!
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Yakir Reshef @yakirreshef.bsky.social · 12/02/2025
Excited to tell you about VIMA (Variational Inference-based Microniche Analysis), our deep learning + stats hybrid for case-control analysis of multi-sample spatial molecular datasets. 🧵👇 www.biorxiv.org/content/10.1... @soumya-boston.bsky.social @broadinstitute.org
biorxiv.org
Powerful and accurate case-control analysis of spatial molecular data with deep learning-defined tissue microniches
As spatial molecular data grow in scope and resolution, there is a pressing need to identify key spatial structures associated with disease. Current approaches often rely on hand-crafted features such...
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Jose Alquicira Hernandez @joseah.bsky.social · 09/11/2024
Hola Mundo
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