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Reposted by Maggie Steiner

John Novembre @jnovembre.bsky.social · 05/06/2025

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

pnas.org

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...

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Reposted by Maggie Steiner

Jeff Spence @jeffspence.github.io · 17/12/2024

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...

biorxiv.org

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...

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Maggie Steiner @maggiesteiner.bsky.social · 05/12/2024

I just figured out how to use feeds! So, sharing this with #popgen 🧪

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Maggie Steiner @maggiesteiner.bsky.social · 04/12/2024

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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