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add beneficial-containing DFE #1469

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petrelharp opened this issue Apr 25, 2023 · 5 comments
Open

add beneficial-containing DFE #1469

petrelharp opened this issue Apr 25, 2023 · 5 comments
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@petrelharp
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petrelharp commented Apr 25, 2023

For instance we could get it from Zhen et al in Genome Research (including Lohmueller); see citations in that paper.
https://genome.cshlp.org/content/31/1/110.abstract

@petrelharp
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@RyanGutenkunst

@klohmueller
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For a DFE with positive selection in humans—we could use this one from Table S6 of Zhen et al. (2021). This DFE is for nonsynonymous mutations. We inferred 1.55% of nonsynonymous mutations were positively selected in humans with a s of 0.0001124605. The remaining nonsynonymous mutations came from a DFE for negative selection (parameters for this are in Table S3). The shape parameter is 0.19 and the scale (beta) in terms of s is 0.074.

@nspope nspope added this to the Version 0.2.1 milestone Dec 20, 2024
@andrewkern
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another possibility for a beneficial DFE that @petrelharp mentioned was @mufernando's recent paper in GENETICS.

@petrelharp -- what species were you thinking we might apply that to? humans? chimps? all apes?

@petrelharp
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petrelharp commented Jan 18, 2025

For a DFE with positive selection in humans—we could use this one from Table S6 of Zhen et al. (2021). This DFE is for nonsynonymous mutations. We inferred 1.55% of nonsynonymous mutations were positively selected in humans with a s of 0.0001124605. The remaining nonsynonymous mutations came from a DFE for negative selection (parameters for this are in Table S3). The shape parameter is 0.19 and the scale (beta) in terms of s is 0.074.

Okay - so, this starts from Huber et al, so this is Gamma_H17 but modified so that a proportion of the nonsynonymous mutations have a (single, fixed) positive selection coefficient as @klohmueller says above.

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Note we did already have one positive-containing DFE.

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