Maggie Steiner
@maggiesteiner.bsky.social
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PhD Candidate @ UChicago Human Genetics
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Excited to share a new preprint with
@jnovembre.bsky.social
! We use a combination of population genetic theory, simulation, and data analysis to ask: how does study design in genetic studies (including biobanks) impact the discovery of rare, deleterious variants?
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10 months ago
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Maggie Steiner
John Novembre
4 months ago
Excited for our publication on how the geographic scale of a sample affects the discovery of rare, deleterious variants to be out this week. With a mix of theory, simulation, and data analysis, we show when samples are narrow vs broad, the number of variants discovered and their frequencies change
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PNAS
Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...
https://www.pnas.org/doi/10.1073/pnas.2425196122
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Out today in
@pnas.org
!
www.pnas.org/doi/10.1073/...
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4 months ago
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reposted by
Maggie Steiner
Jeff Spence
9 months ago
What do GWAS and rare variant burden tests discover, and why? Do these studies find the most IMPORTANT genes? If not, how DO they rank genes? Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬)
www.biorxiv.org/content/10.1...
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Specificity, length, and luck: How genes are prioritized by rare and common variant association studies
Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by anal...
https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1
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add a skeleton here at some point
10 months ago
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Excited to share a new preprint with
@jnovembre.bsky.social
! We use a combination of population genetic theory, simulation, and data analysis to ask: how does study design in genetic studies (including biobanks) impact the discovery of rare, deleterious variants?
add a skeleton here at some point
10 months ago
2
74
35
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