Luke O'Connor

www.cell.com Defining and cataloging variants in pangenome graphs Salehi Nowbandegani et al. introduce pantree, a framework for defining variants in pangenome graphs. By choosing a reference tree and cataloging non-tree edges, pantree resolves variants embedded in...

Luke O'Connor @Luke0connor · Aug 7, 2025

New preprint on a surprising question - with a pangenome reference, *what is a genetic variant?*

biorxiv.org/content/10.110…

With Pouria Salehi Nowbandani, Shenghan Zhang, Haoyang Hu, and Heng Li @lh3lh3

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Ajay Nadig @NadigAjay · Aug 31

How often is autism caused by de novo changes to the genome? What is the spectrum of penetrance across autism-associated genes? What can we expect from future autism gene discovery? I'm pleased to share a new preprint where we develop new statistical methods to answer these Qs.

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www.cell.com Principled measures and estimates of trait polygenicity The “polygenicity” of traits is often invoked, sometimes quantified, but rarely defined from first principles. Here, we define polygenicity measures and argue why the definition is sensible. We...

Luke O'Connor @Luke0connor · Jul 16, 2025

New preprint with Guy Sella on the question: what is polygenicity?

biorxiv.org/content/10.110…

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