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Posts by Alvina Adimoelja

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Why do schizophrenia GWAS signals look so flat across the genome?

In our recent preprint, we explored why psychiatric disorders — and, more broadly, brain-related traits involving the central nervous system — appear to have unusual genetic architectures.

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3 weeks ago 89 42 4 3
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It's out! I hope this work encourages folks to move beyond a standard "one variant, one gene" QTL paradigm and consider proxitropic variant effects. Big thanks to the reviewers and editors at @ajhgnews.bsky.social for their help! @sbmontgom.bsky.social www.sciencedirect.com/science/arti...

1 month ago 31 13 2 1
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Genome-scale perturb-seq in primary human CD4+ T cells maps context-specific regulators of T cell programs and human immune traits Gene regulatory networks encode the fundamental logic of cellular functions, but systematic network mapping remains challenging, especially in cell states relevant to human biology and disease. Here, ...

Together with @ronghuizhu.bsky.social, we are thrilled to present our new perturb-seq study of 22M primary CD4+ T cells, across donors and timepoints – the result of a decade-long collaboration between the Marson @marsonlab.bsky.social and Pritchard @jkpritch.bsky.social labs 🧵 tinyurl.com/gwt2025

3 months ago 64 29 2 4
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High false sign rates in transcriptome-wide association studies Transcriptome-wide association studies (TWAS) are widely used to identify genes involved in complex traits and to infer the direction of gene effects on traits. However, despite their popularity, it r...

How well does TWAS estimate a gene’s direction of effect on a trait? We think of this as an important stress-test for the accuracy of TWAS.

In a new pre-print, we find that TWAS gets the sign wrong around 20-30% of the time!

doi.org/10.64898/202...

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3 months ago 65 26 2 2
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High-risk ER+ Breast Cancers Genomically Resemble HER2+ Tumors Main Finding: HER2+ breast tumors and high-risk ER+ breast tumors share genomic features that reflect similar mechanisms of tumor evolution.Concept: The genomic architecture of breast cancer is constr...

Cancer Discovery #ResearchWatch: High-risk ER+ #BreastCancers Genomically Resemble HER2+ Tumors, a summary of the study by @khoulahan.bsky.social, @lisemangiante.bsky.social, @crissotomayor.bsky.social, @alvinahere.bsky.social, @cncurtis.bsky.social + colleagues @ Stanford

doi.org/10.1158/2159...

1 year ago 5 2 0 0
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Temporal and spatial composition of the tumor microenvironment predicts response to immune checkpoint inhibition Immune checkpoint inhibition (ICI) has fundamentally changed cancer treatment. However, only a minority of patients with metastatic triple negative breast cancer (TNBC) benefit from ICI, and the deter...

I’m super excited to share what I’ve been working on for the last (many) years: a spatial + genomic + transcriptomic characterization of how the breast cancer microenvironment evolves through immunotherapy! (1/x) 🧪🧬 🖥️ #AcademicSky #MLSky #ImmunoSky www.biorxiv.org/content/10.1...

1 year ago 33 13 2 1

Thrilled to share the first paper of my PhD! It was so much fun working on this collaborative project from day one as a rotation student! Huge thanks @khoulahan.bsky.social, @lisemangiante.bsky.social, @crissotomayor.bsky.social, @cncurtis.bsky.social, Jennifer Caswell-Jin & the Curtis lab!

1 year ago 6 4 0 0