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include long description in DFE catalog entries #1658

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1 change: 1 addition & 0 deletions docs/_ext/speciescatalog.py
Original file line number Diff line number Diff line change
Expand Up @@ -513,6 +513,7 @@ def dfe_section(self, species, dfe):
section = nodes.section(ids=[dfe_id])
section += nodes.title(text=dfe.id)
section += nodes.paragraph(text=dfe.description)
section += nodes.paragraph(text=dfe.long_description)
section += nodes.rubric(text="Citations")
section += self.citation_list(dfe)
section += nodes.rubric(text="DFE parameters")
Expand Down
38 changes: 21 additions & 17 deletions stdpopsim/catalog/DroMel/dfes.py
Original file line number Diff line number Diff line change
Expand Up @@ -13,12 +13,12 @@ def _HuberDFE():
id = "Gamma_H17"
description = "Deleterious Gamma DFE"
long_description = """
Return neutral and negative MutationType()s representing a drosophila DFE.
Huber et al. (2017), https://doi.org/10.1073/pnas.1619508114.
DFE parameters are based on the Full model described in Table S2, in which
singletons are excluded and a recent mutation rate estimate is used
(mu=3x10e-9, Keightley 2014).
Deleterious, gamma-distributed DFE estimated from a D. melanogaster SFS in
Huber et al. (2017). DFE parameters are based on the "full" model
described in Table S2, for which singletons were excluded and a recent
mutation rate estimate is used (3e-9, Keightley 2014).
"""
# https://doi.org/10.1073/pnas.1619508114
citations = [
stdpopsim.Citation(
author="Huber et al.",
Expand Down Expand Up @@ -54,19 +54,23 @@ def _RagsdaleDFE():
id = "LognormalPlusPositive_R16"
description = "Deleterious log-normal and beneficial mixed DFE"
long_description = """
Return deleterious and beneficial MutationType()s representing a drosophila DFE
from Ragsdale et al. (2016), https://doi.org/10.1534/genetics.115.184812.
DFE parameters are given in Table S1, with deleterious mutations drawn from a
log-normal distribution and a point mass of positive selection. The DFE was
inferred assuming synonymous variants are neutral and a relative mutation
rate ratio of 2.5 nonsynonymous to 1 synonymous mutation. Results are given as
scaled parameters, so that S = 2*N*s, so an estimate of Ne is required to
convert the scaled selection coefficients to unscaled coefficients. Because the
original study did not report an estimated effective population size, we use
the estimate from Huber et al. (2017) of Ne=2.8e6, which was estimated from
observed genome-wide synonymous mutation diversity and assuming a mutation rate
of 3e-9.
Estimated DFE containing deleterious and beneficial mutations, estimated
by Ragsdale et al. (2016), with a log-normal distribution for deleterious
mutations and a single selection coefficient for positive mutations. The
DFE was inferred in scaled units from the triallelic frequency spectrum in
D. melanogaster, here scaled to real units using an effective population
size of Ne=2.8e6 (Huber et al 2017).
"""
# DFE parameters are given in Table S1, with deleterious mutations drawn from a
# log-normal distribution and a point mass of positive selection.
# Uses only nonsynonymous changes, and assumes a ratio of 2.5 nonsynonymous
# to 1 synonymous mutation. Results are given as scaled parameters, so that
# S = 2*N*s, so an estimate of Ne is required to convert the scaled
# selection coefficients to unscaled coefficients. Because the original
# study did not report an estimated effective population size, we use the
# estimate from Huber et al. (2017) of Ne=2.8e6, which was estimated from
# observed genome-wide synonymous mutation diversity and assuming a
# mutation rate of 3e-9.
citations = [
stdpopsim.Citation(
author="Ragsdale et al.",
Expand Down
49 changes: 23 additions & 26 deletions stdpopsim/catalog/HomSap/dfes.py
Original file line number Diff line number Diff line change
Expand Up @@ -14,14 +14,14 @@ def _KimDFE():
id = "Gamma_K17"
description = "Deleterious Gamma DFE"
long_description = """
Return neutral and negative MutationType()s representing a human DFE.
Kim et al. (2017), https://doi.org/10.1534/genetics.116.197145
The DFE was inferred assuming synonymous variants are neutral and a relative
mutation rate ratio of 2.31 nonsynonymous to 1 synonymous mutation
(Huber et al. 2016). Gamma parameters are given as the shape and the mean
selection coefficient (E[s]) escaled, such that E[s] = -shape*scale*2/(2Na),
where Na is the ancestral population size (12378) as in Kim et al. (2017).
Deleterious, gamma-distributed DFE estimated using 'Fit∂a∂i' from the nonsynonymous
SFS in exons from a dataset of European humans by Kim et al. (2017).
"""
# The DFE was inferred assuming synonymous variants are neutral and a relative
# mutation rate ratio of 2.31 nonsynonymous to 1 synonymous mutation
# (Huber et al. 2016). Gamma parameters are given as the shape and the mean
# selection coefficient (E[s]) escaled, such that E[s] = -shape*scale*2/(2Na),
# where Na is the ancestral population size (12378) as in Kim et al. (2017).
citations = [
stdpopsim.Citation(
author="Kim et al.",
Expand Down Expand Up @@ -62,11 +62,12 @@ def _HuberDFE():
id = "Gamma_H17"
description = "Deleterious Gamma DFE"
long_description = """
Return neutral and negative MutationType()s representing a Homo sapiens DFE.
Huber et al. (2017), https://doi.org/10.1073/pnas.1619508114.
DFE parameters are based on the Full Model described in Table S2, in which
All Data (none of the listed filters) were used.
""" # [this was a different filtering scheme than the Huber et al DroMel DFE ]
Deleterious, gamma-distributed DFE estimated from the SFS of YRI samples in
the 1000 genomes project by Huber et al. (2017). DFE parameters are from
the "full" model in Table S2, in which all data (none of the listed
filters) were used.
"""
# [this was a different filtering scheme than the Huber et al DroMel DFE ]
citations = [
stdpopsim.Citation(
author="Huber et al.",
Expand Down Expand Up @@ -109,19 +110,16 @@ def _HuberLogNormalDFE():
id = "LogNormal_H17"
description = "Deleterious Log-normal DFE"
long_description = """
Return neutral and negative MutationType()s representing a human DFE.
Huber et al. (2017), https://doi.org/10.1073/pnas.1619508114.
DFE parameters are based off the Full model in Table S3, Using recent
mutation rate estimates.
Log-normal distribution parameters were given as the
mean and standard deviation of the log.
Deleterious, log-normal-distributed DFE estimated from the SFS of YRI
samples in the 1000 genomes project by Huber et al. (2017).
Parameters as shown for the "full" model in Table S3.
"""
citations = [
stdpopsim.Citation(
author="Huber et al.",
year=2017,
doi="https://doi.org/10.1073/pnas.1619508114",
reasons={stdpopsim.CiteReason.DFE}, # include the dfe_model reason
reasons={stdpopsim.CiteReason.DFE},
)
]
neutral = stdpopsim.MutationType()
Expand Down Expand Up @@ -153,13 +151,12 @@ def _KyriazisDFE():
id = "Mixed_K23"
description = "Deleterious Gamma DFE with additional lethals"
long_description = """
The DFE estimated from human data recommended in Kyriazis et al.
(2023), https://doi.org/10.1086/726736, for general use.
This model is similar to the Kim et al. (2017) DFE based on human
genetic data, modified to include the dominance distribution from
Henn et al. (2016).
The model is also augmented with an additional proportion of 0.3% of
recessive lethals, based on the analysis of Wade et al. (2023).
The DFE estimated from human data recommended in Kyriazis et al. (2023),
for general use. This model is similar to the Kim et al. (2017) DFE based
on human genetic data, modified to include the dominance distribution from
Henn et al. (2016). The model is also augmented with an additional
proportion of 0.3% of recessive lethals, based on the analysis of
Wade et al. (2023).
"""
citations = [
stdpopsim.Citation(
Expand Down
11 changes: 4 additions & 7 deletions stdpopsim/catalog/MusMus/dfes.py
Original file line number Diff line number Diff line change
Expand Up @@ -13,19 +13,16 @@ def _BookerDFE():
id = "Gamma_B21"
description = "Deleterious Gamma DFE CDS"
long_description = """
Return negative MutationType()s representing a Mus
musculus subsp. castaneous DFE for protein coded exons or CDS. Booker et al. (2021),
https://doi.org/10.1101/2021.06.10.447924
DFE parameters are based on an analysis of the unfolded site frequency spectrum
(uSFS) using polyDFE v2 (Tataru and Bataillon 2019) as presented in Booker
et al. (2021).
A gamma-distributed DFE for deleterious mutations estimated from the SFS of
Mus musculus castaneous exons by Booker et al. (2021), using polyDFE v2
(Tataru and Bataillon 2019).
"""
citations = [
stdpopsim.Citation(
author="Booker et al.",
year=2021,
doi="https://doi.org/10.1101/2021.06.10.447924",
reasons={stdpopsim.CiteReason.DFE}, # include the dfe_model reason
reasons={stdpopsim.CiteReason.DFE},
)
]
neutral = stdpopsim.MutationType()
Expand Down
17 changes: 8 additions & 9 deletions stdpopsim/catalog/PhoSin/dfes.py
Original file line number Diff line number Diff line change
Expand Up @@ -13,16 +13,15 @@ def _RobinsonDFE():
id = "Gamma_R22"
description = "Deleterious Gamma DFE"
long_description = """
Vaquita DFE inferred by Robinson et al. (2022), and used in simulations.
The DFE was inferred assuming synonymous variants are neutral and a relative
mutation rate ratio of 2.31 nonsynonymous to 1 synonymous mutation
(Huber et al. 2017). The inference procedure is described in pages 9-10 of
the supplementary material of Robinson et al. (2022), and values used in
SLiM simulations based on this DFE are specified in pages 11-12.
Supplement URL:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881057/
bin/NIHMS1864134-supplement-Supplementary_material.pdf
Gamma-distributed deleterious DFE inferred by Robinson et al. (2022),
and used in their simulations, from the synonymous and nonsynonymous SFS from
Vaquita data, following the methods of Huber et al (2017).
"""
# The DFE was inferred assuming synonymous variants are neutral and a relative
# mutation rate ratio of 2.31 nonsynonymous to 1 synonymous mutation
# (Huber et al. 2017). The inference procedure is described in pages 9-10 of
# the supplementary material of Robinson et al. (2022), and values used in
# SLiM simulations based on this DFE are specified in pages 11-12.
citations = [
stdpopsim.Citation(
author="Robinson et al.",
Expand Down
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