Happy to have the chance to share this commentary by @will-milligan.bsky.social & me:
rdcu.be/fldBs.
Our autoimmunity paper is out today in final form and OA. We found a fascinating landscape of somatic evolution underpinning thyroid autoimmunity, where tens of B cell clones convergently lose immune checkpoints and some acquire 4-6 drivers over years of evolution. www.nature.com/articles/s41...
I'm excited to share that our work studying gene dosage response curves (GDRCs) is now out in Cell Genomics (@cellpress.bsky.social).
www.cell.com/cell-genomic...
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Thanks in particular to co-authors Brynelle Myers, Martin Houlard, @anjalihinch.bsky.social, and Emmanuelle Bitoun, and to many others! 11/n
Accounting for recurrent mutation in the frequency spectrum of rare alleles https://www.biorxiv.org/content/10.64898/2026.05.29.728884v1
Beyond insights into germline development, we highlight how common non-coding variation, through alterations in timing/efficiency of early processes, can drive cascading effects on a complex trait like fertility, with implications for regulatory variation in human complex traits. 10/n
We also observed a post-zygotic impact of asymmetry in the form of (surprisingly, given previous studies showing broad-scale rates are very robust) strongly perturbed crossover rates at multi-megabase scales, and draw out the implications for the timing of crossover pathway choice. 9/n
But even where cells survive to complete one or both meiotic divisions, they exhibit abnormalities including aneuploidy of multiple chromosomes, especially the X/Y chromosomes: thus, beyond fertility reductions, there are likely additional fitness costs for gametes and/or offspring. 8/n