Evan Koch

75 posts

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Evan Koch

Evan Koch

@Evan_M_Koch

population genetics

New Haven Katılım Nisan 2022
132 Takip Edilen93 Takipçiler
Evan Koch retweetledi
Vladimir Seplyarskiy
Vladimir Seplyarskiy@seplyarskiy·
Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. medrxiv.org/content/10.110…
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Evan Koch
Evan Koch@Evan_M_Koch·
@SashaGusevPosts Thanks! I just made it for a journal club on stabilizing selection a while ago.
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Sasha Gusev
Sasha Gusev@SashaGusevPosts·
@Evan_M_Koch Wow, this is a really nice visualization! Is this from a paper?
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Sasha Gusev
Sasha Gusev@SashaGusevPosts·
"for any set of constant fitnesses, there is always an alternative frequency dependent fitness set that generates the same exact allele-frequency dynamics"
Sasha Gusev tweet media
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Evan Koch
Evan Koch@Evan_M_Koch·
Here's a briefing for our mutation rate paper (now up rdcu.be/dsE7A). We hope our estimates prove useful. It was fun to think about residual variance, popgen applications in big samples, and some of the most mutable regions of the genome. nature.com/articles/s4158…
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Evan Koch retweetledi
Vladimir Seplyarskiy
Vladimir Seplyarskiy@seplyarskiy·
Amazing study. Because SNV rate elevated just 1.2-1.3 fold around PRMD9 sites, it is important to accurately control for local mutation rate and context. Indeed all SNV related results could be reproduced against our mutation rate model (nature.com/articles/s4158…)
Vladimir Seplyarskiy tweet media
Anjali Hinch@anjali_hinch

We are pleased to share our paper, new in @sciencemagazine, on the scale, impact, and mechanisms underlying mutations arising in meiosis. Thanks to the team, collaborators, and colleagues! (1/2) science.org/doi/10.1126/sc…

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Evan Koch retweetledi
Vladimir Seplyarskiy
Vladimir Seplyarskiy@seplyarskiy·
We would encourage everyone to use our estimates. Let us know if track that we are providing is hard to use or if you spot any biases in Roulette estimates.
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Evan Koch retweetledi
Vladimir Seplyarskiy
Vladimir Seplyarskiy@seplyarskiy·
Our germline mutation rate model have been published in @NatureGenet. Together with methods to estimate mutation rate, we designed novel validation metrics and characterized hypermutability associated with Pol III transcription.
Vladimir Seplyarskiy@seplyarskiy

The model. To predict probability of a mutation in certain position we accounted for 6 surrounding nucleotides, direction of replication and transcription, expression level, and local mutation rate and spectra. We trained Roulette on recurrency corrected rare SNVs from GNOMAD

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Evan Koch retweetledi
Gideon Bradburd
Gideon Bradburd@gbradburd·
Midwest PopGen 2023 is happening at UMich Aug 4-5! Registration is free!  Full announcement here: genescape.org/mwpg2023. Please RT!
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Keşfet

@nickywhiffin @GenomicsEngland @jgschraiber @shilpanads @MishaMoldovan95 @mwpen @DocEdge85 @SashaGusevPosts