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Ipsita Agarwal

@ipsitaagarwal.bsky.social

Evolution and genetics @oxford

11 Posts142 Follower230 Folgt
Vladimir (Vova) Seplyarskiy@vseplyarskiy.bsky.social · last mo.

Very happy with study spearheaded by Prathitha. One highlight for me. Building on idea from elifesciences.org/articles/71513 we showed that it is possible to detect selection for individual missense mutations in hypermutable sites.

Mutation saturation for fitness effects at human CpG sites

Methylated CpG sites are saturated for T mutations in a sample of 390K human exomes, providing a test case for inferences about fitness effects in human genes, and insight into the interpretation of m...

elifesciences.org

Pprathitha.bsky.social@prathitha.bsky.social · last mo.

Excited to share our new preprint, "Inference of elevated mutation rates and variant effects using 700k exomes"! - www.biorxiv.org/content/10.6... Using gnomAD v4, we estimate per-variant missense selection coefficients, and find loss-of-function (LoF) mutations with enhanced mutation rates.

Inigo Martincorena@imartincorena.bsky.social · 2mo ago

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...

Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity - Nature

Single-molecule DNA sequencing identifies recurrent somatic mutations in autoimmune B cells that may allow them to escape peripheral tolerance and cause autoimmune disease.

nature.com

Molly Przeworski@mollyprz.bsky.social · 3mo ago

Happy to highlight new findings by Vanesa Getseva and Lin Poyraz about the sources of variation in germline mutation rates among humans: www.biorxiv.org/content/10.6... Joint work with Anastasia Stolyarova and @ipsitaagarwal.bsky.social. 1/n

A sibling study of variation in parental mutation rates

People are born with variable numbers of de novo germline mutations (DNMs), depending primarily on the ages of their parents. To explore additional causes, we developed an approach to call DNMs from nucleotide differences between siblings in genomic regions inherited identical by descent from both parents. Applying it to whole genome sequences from 28,985 sibling pairs of diverse genetic ancestries present in the UK Biobank and All of Us datasets, as well as 2,330 trios, we identified >800K autosomal DNMs and characterized mutation phenotypes in 27,645 sets of parents. We found subtle shifts in the mutation spectrum but no differences in total DNM rates among genetic ancestry groups, or between smokers and non-smokers. Testing for associations between parental mutation phenotypes and their burden of loss-of-function and deleterious missense variants in a set of 180 DNA repair and maintenance genes, we discovered that disruptions in REV1 and LIG1 increase germline mutation rates, and thus that rare mutator alleles segregate in population cohorts. ### Competing Interest Statement The authors have declared no competing interest. NIH, R35 GM083098

biorxiv.org

Kelley Harris@kelleyharris.bsky.social · last yr.

. @pnas.org just published the final version of our manuscript on how generation time and effective population size interact to shape vertebrate germline mutation rates, led by Luke Zhu and Annabel Beichman: www.pnas.org/doi/10.1073/...

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...

pnas.org

Sri Kosuri@srikosuri.bsky.social · last yr.

It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS or other (non-LCH) dendritic or histiocytic sarcomas cases.

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