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@ARTICLE{Cruickshank2014-jr,
title = "Reanalysis suggests that genomic islands of speciation are due to
reduced diversity, not reduced gene flow",
author = "Cruickshank, Tami E and Hahn, Matthew W",
abstract = "The metaphor of 'genomic islands of speciation' was first used to
describe heterogeneous differentiation among loci between the
genomes of closely related species. The biological model proposed
to explain these differences was that the regions showing high
levels of differentiation were resistant to gene flow between
species, while the remainder of the genome was being homogenized
by gene flow and consequently showed lower levels of
differentiation. However, the conditions under which such
differentiation can occur at multiple unlinked loci are
restrictive; additionally, essentially, all previous analyses
have been carried out using relative measures of divergence,
which can be misleading when regions with different levels of
recombination are compared. Here, we test the model of
differential gene flow by asking whether absolute divergence is
also higher in the previously identified 'islands'. Using five
species pairs for which full sequence data are available, we find
that absolute measures of divergence are not higher in genomic
islands. Instead, in all cases examined, we find reduced
diversity in these regions, a consequence of which is that
relative measures of divergence are abnormally high. These data
therefore do not support a model of differential gene flow among
loci, although islands of relative divergence may represent loci
involved in local adaptation. Simulations using the program IMa2
further suggest that inferences of any gene flow may be incorrect
in many comparisons. We instead present an alternative
explanation for heterogeneous patterns of differentiation, one in
which postspeciation selection generates patterns consistent with
multiple aspects of the data.",
journal = "Mol. Ecol.",
volume = 23,
number = 13,
pages = "3133--3157",
month = jul,
year = 2014,
keywords = "F ST; IM; hitchhiking; recombination; sympatric speciation",
language = "en"
}
@ARTICLE{Malinsky2015-qq,
title = "Genomic islands of speciation separate cichlid ecomorphs in an
East African crater lake",
author = "Malinsky, Milan and Challis, Richard J and Tyers, Alexandra M and
Schiffels, Stephan and Terai, Yohey and Ngatunga, Benjamin P and
Miska, Eric A and Durbin, Richard and Genner, Martin J and
Turner, George F",
abstract = "The genomic causes and effects of divergent ecological selection
during speciation are still poorly understood. Here we report the
discovery and detailed characterization of early-stage adaptive
divergence of two cichlid fish ecomorphs in a small (700 meters
in diameter) isolated crater lake in Tanzania. The ecomorphs
differ in depth preference, male breeding color, body shape,
diet, and trophic morphology. With whole-genome sequences of 146
fish, we identified 98 clearly demarcated genomic ``islands'' of
high differentiation and demonstrated the association of
genotypes across these islands with divergent mate preferences.
The islands contain candidate adaptive genes enriched for
functions in sensory perception (including rhodopsin and other
twilight-vision-associated genes), hormone signaling, and
morphogenesis. Our study suggests mechanisms and genomic regions
that may play a role in the closely related mega-radiation of
Lake Malawi.",
journal = "Science",
volume = 350,
number = 6267,
pages = "1493--1498",
month = dec,
year = 2015,
language = "en"
}
@ARTICLE{Turner2005-pj,
title = "Genomic islands of speciation in Anopheles gambiae",
author = "Turner, Thomas L and Hahn, Matthew W and Nuzhdin, Sergey V",
abstract = "The African malaria mosquito, Anopheles gambiae sensu stricto (A.
gambiae), provides a unique opportunity to study the evolution of
reproductive isolation because it is divided into two sympatric,
partially isolated subtaxa known as M form and S form. With the
annotated genome of this species now available, high-throughput
techniques can be applied to locate and characterize the genomic
regions contributing to reproductive isolation. In order to
quantify patterns of differentiation within A. gambiae, we
hybridized population samples of genomic DNA from each form to
Affymetrix GeneChip microarrays. We found that three regions,
together encompassing less than 2.8 Mb, are the only locations
where the M and S forms are significantly differentiated. Two of
these regions are adjacent to centromeres, on Chromosomes 2L and
X, and contain 50 and 12 predicted genes, respectively. Sequenced
loci in these regions contain fixed differences between forms and
no shared polymorphisms, while no fixed differences were found at
nearby control loci. The third region, on Chromosome 2R, contains
only five predicted genes; fixed differences in this region were
also verified by direct sequencing. These ``speciation islands''
remain differentiated despite considerable gene flow, and are
therefore expected to contain the genes responsible for
reproductive isolation. Much effort has recently been applied to
locating the genes and genetic changes responsible for
reproductive isolation between species. Though much can be
inferred about speciation by studying taxa that have diverged for
millions of years, studying differentiation between taxa that are
in the early stages of isolation will lead to a clearer view of
the number and size of regions involved in the genetics of
speciation. Despite appreciable levels of gene flow between the M
and S forms of A. gambiae, we were able to isolate three small
regions of differentiation where genes responsible for ecological
and behavioral isolation are likely to be located. We expect
reproductive isolation to be due to changes at a small number of
loci, as these regions together contain only 67 predicted genes.
Concentrating future mapping experiments on these regions should
reveal the genes responsible for reproductive isolation between
forms.",
journal = "PLoS Biol.",
volume = 3,
number = 9,
pages = "e285",
month = sep,
year = 2005,
language = "en"
}
@ARTICLE{Turner2010-wn,
title = "Population resequencing reveals local adaptation of Arabidopsis
lyrata to serpentine soils",
author = "Turner, Thomas L and Bourne, Elizabeth C and Von Wettberg, Eric J
and Hu, Tina T and Nuzhdin, Sergey V",
abstract = "A powerful way to map functional genomic variation and reveal the
genetic basis of local adaptation is to associate allele
frequency across the genome with environmental conditions.
Serpentine soils, characterized by high heavy-metal content and
low calcium-to-magnesium ratios, are a classic context for
studying adaptation of plants to local soil conditions. To
investigate whether Arabidopsis lyrata is locally adapted to
serpentine soil, and to map the polymorphisms responsible for
such adaptation, we pooled DNA from individuals from serpentine
and nonserpentine soils and sequenced each 'gene pool' with the
Illumina Genome Analyzer. The polymorphisms that are most
strongly associated with soil type are enriched at heavy-metal
detoxification and calcium and magnesium transport loci,
providing numerous candidate mutations for serpentine adaptation.
Sequencing of three candidate loci in the European subspecies of
A. lyrata indicates parallel differentiation of the same
polymorphism at one locus, confirming ecological adaptation, and
different polymorphisms at two other loci, which may indicate
convergent evolution.",
journal = "Nat. Genet.",
volume = 42,
number = 3,
pages = "260--263",
month = mar,
year = 2010,
language = "en"
}
@ARTICLE{Santodomingo2015-yl,
title = "Fossils reveal a high diversity of the staghorn coral genera
Acropora and Isopora (Scleractinia: Acroporidae) in the Neogene
of Indonesia",
author = "Santodomingo, Nadiezhda and Wallace, Carden C and Johnson,
Kenneth G",
abstract = "Abstract. Although Acropora is the most diverse and abundant
coral genus on modern Indo-Pacific reefs, there is only limited
understanding of its evolutionary h",
journal = "Zool. J. Linn. Soc.",
publisher = "Oxford Academic",
volume = 175,
number = 4,
pages = "677--763",
month = nov,
year = 2015,
language = "en"
}
@ARTICLE{Keightley2018-dh,
title = "Inferring the Probability of the Derived vs. the Ancestral
Allelic State at a Polymorphic Site",
author = "Keightley, Peter D and Jackson, Benjamin C",
abstract = "It is known that the allele ancestral to the variation at a
polymorphic site cannot be assigned with certainty, and that the
most frequently used method to assign the ancestral state-maximum
parsimony-is prone to misinference. Estimates of counts of sites
that have a certain number of copies of the derived allele in a
sample (the unfolded site frequency spectrum, uSFS) made by
parsimony are therefore also biased. We previously developed a
maximum likelihood method to estimate the uSFS for a focal
species using information from two outgroups while assuming
simple models of nucleotide substitution. Here, we extend this
approach to allow multiple outgroups (implemented for three
outgroups), potentially any phylogenetic tree topology, and more
complex models of nucleotide substitution. We find, however, that
two outgroups and the Kimura two-parameter model are adequate for
uSFS inference in most cases. We show that using parsimony to
infer the ancestral state at a specific site seriously breaks
down in two situations. The first is where the outgroups provide
no information about the ancestral state of variation in the
focal species. In this case, nucleotide variation will be
underestimated if such sites are excluded. The second is where
the minor allele in the focal species agrees with the allelic
state of the outgroups. In this situation, parsimony tends to
overestimate the probability of the major allele being derived,
because it fails to account for the fact that sites with a high
frequency of the derived allele tend to be rare. We present a
method that corrects this deficiency and is capable of providing
nearly unbiased estimates of ancestral state probabilities on a
site-by-site basis and the uSFS.",
journal = "Genetics",
volume = 209,
number = 3,
pages = "897--906",
month = jul,
year = 2018,
keywords = "ancestral allele; derived allele; misinference; nucleotide
polymorphism; parsimony; unfolded site frequency spectrum",
language = "en"
}
@ARTICLE{Albers2020-vl,
title = "Dating genomic variants and shared ancestry in population-scale
sequencing data",
author = "Albers, Patrick K and McVean, Gil",
abstract = "The origin and fate of new mutations within species is the
fundamental process underlying evolution. However, while much
attention has been focused on characterizing the presence,
frequency, and phenotypic impact of genetic variation, the
evolutionary histories of most variants are largely unexplored.
We have developed a nonparametric approach for estimating the
date of origin of genetic variants in large-scale sequencing data
sets. The accuracy and robustness of the approach is demonstrated
through simulation. Using data from two publicly available human
genomic diversity resources, we estimated the age of more than 45
million single-nucleotide polymorphisms (SNPs) in the human
genome and release the Atlas of Variant Age as a public online
database. We characterize the relationship between variant age
and frequency in different geographical regions and demonstrate
the value of age information in interpreting variants of
functional and selective importance. Finally, we use allele age
estimates to power a rapid approach for inferring the ancestry
shared between individual genomes and to quantify genealogical
relationships at different points in the past, as well as to
describe and explore the evolutionary history of modern human
populations.",
journal = "PLoS Biol.",
volume = 18,
number = 1,
pages = "e3000586",
month = jan,
year = 2020,
language = "en"
}
@ARTICLE{Yi2010-br,
title = "Sequencing of 50 human exomes reveals adaptation to high altitude",
author = "Yi, Xin and Liang, Yu and Huerta-Sanchez, Emilia and Jin, Xin and
Cuo, Zha Xi Ping and Pool, John E and Xu, Xun and Jiang, Hui and
Vinckenbosch, Nicolas and Korneliussen, Thorfinn Sand and Zheng,
Hancheng and Liu, Tao and He, Weiming and Li, Kui and Luo,
Ruibang and Nie, Xifang and Wu, Honglong and Zhao, Meiru and Cao,
Hongzhi and Zou, Jing and Shan, Ying and Li, Shuzheng and Yang,
Qi and {Asan} and Ni, Peixiang and Tian, Geng and Xu, Junming and
Liu, Xiao and Jiang, Tao and Wu, Renhua and Zhou, Guangyu and
Tang, Meifang and Qin, Junjie and Wang, Tong and Feng, Shuijian
and Li, Guohong and {Huasang} and Luosang, Jiangbai and Wang, Wei
and Chen, Fang and Wang, Yading and Zheng, Xiaoguang and Li, Zhuo
and Bianba, Zhuoma and Yang, Ge and Wang, Xinping and Tang,
Shuhui and Gao, Guoyi and Chen, Yong and Luo, Zhen and Gusang,
Lamu and Cao, Zheng and Zhang, Qinghui and Ouyang, Weihan and
Ren, Xiaoli and Liang, Huiqing and Zheng, Huisong and Huang, Yebo
and Li, Jingxiang and Bolund, Lars and Kristiansen, Karsten and
Li, Yingrui and Zhang, Yong and Zhang, Xiuqing and Li, Ruiqiang
and Li, Songgang and Yang, Huanming and Nielsen, Rasmus and Wang,
Jun and Wang, Jian",
abstract = "Residents of the Tibetan Plateau show heritable adaptations to
extreme altitude. We sequenced 50 exomes of ethnic Tibetans,
encompassing coding sequences of 92\% of human genes, with an
average coverage of 18x per individual. Genes showing
population-specific allele frequency changes, which represent
strong candidates for altitude adaptation, were identified. The
strongest signal of natural selection came from endothelial
Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription
factor involved in response to hypoxia. One single-nucleotide
polymorphism (SNP) at EPAS1 shows a 78\% frequency difference
between Tibetan and Han samples, representing the fastest allele
frequency change observed at any human gene to date. This SNP's
association with erythrocyte abundance supports the role of EPAS1
in adaptation to hypoxia. Thus, a population genomic survey has
revealed a functionally important locus in genetic adaptation to
high altitude.",
journal = "Science",
volume = 329,
number = 5987,
pages = "75--78",
month = jul,
year = 2010,
language = "en"
}
@ARTICLE{Shinzato2015-rz,
title = "Genome-wide {SNP} analysis explains coral diversity and recovery
in the Ryukyu Archipelago",
author = "Shinzato, Chuya and Mungpakdee, Sutada and Arakaki, Nana and
Satoh, Noriyuki",
abstract = "Following a global coral bleaching event in 1998, Acropora corals
surrounding most of Okinawa island (OI) were devastated, although
they are now gradually recovering. In contrast, the Kerama
Islands (KIs) only 30 km west of OI, have continuously hosted a
great variety of healthy corals. Taking advantage of the decoded
Acropora digitifera genome and using genome-wide SNP analyses, we
clarified Acropora population structure in the southern Ryukyu
Archipelago (sRA). Despite small genetic distances, we identified
distinct clusters corresponding to specific island groups,
suggesting infrequent long-distance dispersal within the sRA.
Although the KIs were believed to supply coral larvae to OI,
admixture analyses showed that such dispersal is much more
limited than previously realized, indicating independent recovery
of OI coral populations and the necessity of local conservation
efforts for each region. We detected strong historical migration
from the Yaeyama Islands (YIs) to OI, and suggest that the YIs
are the original source of OI corals. In addition, migration
edges to the KIs suggest that they are a historical sink
population in the sRA, resulting in high diversity. This
population genomics study provides the highest resolution data to
date regarding coral population structure and history.",
journal = "Sci. Rep.",
volume = 5,
pages = "18211",
month = dec,
year = 2015,
language = "en"
}
@ARTICLE{Mao2018,
year = {2018},
title = {{The Roles of Introgression and Climate Change in the Rise to Dominance of Acropora Corals}},
author = {Mao, Yafei and Economo, Evan P and Satoh, Noriyuki},
journal = {Current Biology},
issn = {0960-9822},
doi = {10.1016/j.cub.2018.08.061},
pmid = {30344117},
abstract = {{Reef-building corals provide the structural basis for one of Earth’s most spectacular and diverse—but increasingly threatened—ecosystems. Modern Indo-Pacific reefs are dominated by species of the staghorn coral genus Acropora, but the evolutionary and ecological factors associated with their diversification and rise to dominance are unclear. Recent work on evolutionary radiations has demonstrated the importance of introgression and ecological opportunity in promoting diversification and ecological success. Here, we analyze the genomes of five staghorn coral species to examine the roles of introgression and ecological opportunity in the rise to dominance of Acropora. We found evidence for a history marked by a major introgression event as well as recurrent gene flow across species. In addition, we found that genes with topologies mismatching the species tree are evolving faster, which is suggestive of a role for introgression in spreading adaptive genetic variation. Demographic analysis showed that Acropora lineages profited from climate-driven mass extinctions in the Plio-Pleistocene, indicating that Acropora exploited ecological opportunity opened by a new climatic regime favoring species that could cope with rapid sea-level changes. Collectively, the genomes of reef-building corals have recorded an evolutionary history shaped by introgression and climate change, suggesting that Acropora—among most vulnerable corals to stressors—may be critical for understanding how reefs track the impending rapid sea-level changes of the Anthropocene.}},
pages = {3373--3382.e5},
number = {21},
volume = {28},
local-url = {file://localhost/Users/jiaz/Documents/Papers%20Library/Current%20Biology/Mao-The%20Roles%20of%20Introgression%20and%20Climate%20Change%20in%20the%20Rise%20to%20Dominance%20of%20Acropora%20Corals-2018-Current%20Biology.pdf}
}
@ARTICLE{Shinzato2020,
author = {Shinzato, Chuya and Khalturin, Konstantin and Inoue, Jun and Zayasu, Yuna and Kanda, Miyuki and Kawamitsu, Mayumi and Yoshioka, Yuki and Yamashita, Hiroshi and Suzuki, Go and Satoh, Noriyuki},
title = "{Eighteen Coral Genomes Reveal the Evolutionary Origin of Acropora Strategies to Accommodate Environmental Changes}",
journal = {Molecular Biology and Evolution},
volume = {38},
number = {1},
pages = {16-30},
year = {2020},
month = {09},
issn = {0737-4038},
doi = {10.1093/molbev/msaa216},
url = {https://doi.org/10.1093/molbev/msaa216},
eprint = {https://academic.oup.com/mbe/article-pdf/38/1/16/35389303/msaa216.pdf},
}
@ARTICLE{Cowman2020-mo,
title = "An enhanced target-enrichment bait set for Hexacorallia provides
phylogenomic resolution of the staghorn corals (Acroporidae) and
close relatives",
author = "Cowman, Peter F and Quattrini, Andrea M and Bridge, Tom C L and
Watkins-Colwell, Gregory J and Fadli, Nur and Grinblat, Mila and
Roberts, T Edward and McFadden, Catherine S and Miller, David J
and Baird, Andrew H",
abstract = "Targeted enrichment of genomic DNA can profoundly increase the
phylogenetic resolution of clades and inform taxonomy. Here, we
redesign a custom bait set previously developed for the cnidarian
class Anthozoa to more efficiently target and capture
ultraconserved elements (UCEs) and exonic loci within the
subclass Hexacorallia. We test this enhanced bait set (targeting
2476 loci) on 99 specimens of scleractinian corals spanning both
the ``complex'' (Acroporidae, Agariciidae) and ``robust''
(Fungiidae) clades. Focused sampling in the staghorn corals
(genus Acropora) highlights the ability of sequence capture to
inform the taxonomy of a clade previously deficient in molecular
resolution. A mean of 1850 ($\pm$298) loci were captured per
taxon (955 UCEs, 894 exons), and a 75\% complete concatenated
alignment of 96 samples included 1792 loci (991 UCE, 801 exons)
and ~1.87 million base pairs. Maximum likelihood and Bayesian
analyses recovered robust molecular relationships and revealed
that species-level relationships within the Acropora are
incongruent with traditional morphological groupings. Both UCE
and exon datasets delineated six well-supported clades within
Acropora. The enhanced bait set will facilitate investigations of
the evolutionary history of many important groups of reef corals,
particularly where previous molecular marker development has been
unsuccessful.",
journal = "Mol. Phylogenet. Evol.",
volume = 153,
pages = "106944",
month = dec,
year = 2020,
keywords = "Exon; Phylogenetics; Scleractinia; Targeted enrichment; UCEs;
Ultraconserved elements",
language = "en"
}
@ARTICLE{Meisner2021-um,
title = "Detecting Selection in {Low-Coverage} {High-Throughput} Sequencing
Data using Principal Component Analysis",
author = "Meisner, Jonas and Albrechtsen, Anders and Hangh{\o}j, Kristian",
journal = "bioRXiv",
year = 2021
}
@ARTICLE{Alonge2019-yy,
title = "{RaGOO}: fast and accurate reference-guided scaffolding of draft
genomes",
author = "Alonge, Michael and Soyk, Sebastian and Ramakrishnan, Srividya
and Wang, Xingang and Goodwin, Sara and Sedlazeck, Fritz J and
Lippman, Zachary B and Schatz, Michael C",
abstract = "We present RaGOO, a reference-guided contig ordering and
orienting tool that leverages the speed and sensitivity of
Minimap2 to accurately achieve chromosome-scale assemblies in
minutes. After the pseudomolecules are constructed, RaGOO
identifies structural variants, including those spanning
sequencing gaps. We show that RaGOO accurately orders and orients
3 de novo tomato genome assemblies, including the widely used M82
reference cultivar. We then demonstrate the scalability and
utility of RaGOO with a pan-genome analysis of 103 Arabidopsis
thaliana accessions by examining the structural variants detected
in the newly assembled pseudomolecules. RaGOO is available open
source at https://github.com/malonge/RaGOO .",
journal = "Genome Biol.",
volume = 20,
number = 1,
pages = "224",
month = oct,
year = 2019,
keywords = "Genome alignment; Genome assembly; Long-read sequencing;
Pseudomolecule; Reference-guided; Scaffolding; Tomato",
language = "en"
}
@ARTICLE{Yi2010-br,
title = "Sequencing of 50 human exomes reveals adaptation to high altitude",
author = "Yi, Xin and Liang, Yu and Huerta-Sanchez, Emilia and Jin, Xin and
Cuo, Zha Xi Ping and Pool, John E and Xu, Xun and Jiang, Hui and
Vinckenbosch, Nicolas and Korneliussen, Thorfinn Sand and Zheng,
Hancheng and Liu, Tao and He, Weiming and Li, Kui and Luo,
Ruibang and Nie, Xifang and Wu, Honglong and Zhao, Meiru and Cao,
Hongzhi and Zou, Jing and Shan, Ying and Li, Shuzheng and Yang,
Qi and {Asan} and Ni, Peixiang and Tian, Geng and Xu, Junming and
Liu, Xiao and Jiang, Tao and Wu, Renhua and Zhou, Guangyu and
Tang, Meifang and Qin, Junjie and Wang, Tong and Feng, Shuijian
and Li, Guohong and {Huasang} and Luosang, Jiangbai and Wang, Wei
and Chen, Fang and Wang, Yading and Zheng, Xiaoguang and Li, Zhuo
and Bianba, Zhuoma and Yang, Ge and Wang, Xinping and Tang,
Shuhui and Gao, Guoyi and Chen, Yong and Luo, Zhen and Gusang,
Lamu and Cao, Zheng and Zhang, Qinghui and Ouyang, Weihan and
Ren, Xiaoli and Liang, Huiqing and Zheng, Huisong and Huang, Yebo
and Li, Jingxiang and Bolund, Lars and Kristiansen, Karsten and
Li, Yingrui and Zhang, Yong and Zhang, Xiuqing and Li, Ruiqiang
and Li, Songgang and Yang, Huanming and Nielsen, Rasmus and Wang,
Jun and Wang, Jian",
abstract = "Residents of the Tibetan Plateau show heritable adaptations to
extreme altitude. We sequenced 50 exomes of ethnic Tibetans,
encompassing coding sequences of 92\% of human genes, with an
average coverage of 18x per individual. Genes showing
population-specific allele frequency changes, which represent
strong candidates for altitude adaptation, were identified. The
strongest signal of natural selection came from endothelial
Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription
factor involved in response to hypoxia. One single-nucleotide
polymorphism (SNP) at EPAS1 shows a 78\% frequency difference
between Tibetan and Han samples, representing the fastest allele
frequency change observed at any human gene to date. This SNP's
association with erythrocyte abundance supports the role of EPAS1
in adaptation to hypoxia. Thus, a population genomic survey has
revealed a functionally important locus in genetic adaptation to
high altitude.",
journal = "Science",
volume = 329,
number = 5987,
pages = "75--78",
month = jul,
year = 2010,
language = "en"
}
@ARTICLE{Ceballos2018-sx,
title = "Runs of homozygosity: windows into population history and trait
architecture",
author = "Ceballos, Francisco C and Joshi, Peter K and Clark, David W and
Ramsay, Mich{\`e}le and Wilson, James F",
abstract = "Long runs of homozygosity (ROH) arise when identical haplotypes
are inherited from each parent and thus a long tract of genotypes
is homozygous. Cousin marriage or inbreeding gives rise to such
autozygosity; however, genome-wide data reveal that ROH are
universally common in human genomes even among outbred
individuals. The number and length of ROH reflect individual
demographic history, while the homozygosity burden can be used to
investigate the genetic architecture of complex disease. We
discuss how to identify ROH in genome-wide microarray and
sequence data, their distribution in human populations and their
application to the understanding of inbreeding depression and
disease risk.",
journal = "Nat. Rev. Genet.",
volume = 19,
number = 4,
pages = "220--234",
month = apr,
year = 2018,
language = "en"
}
@ARTICLE{Smith2018-xt,
title = "Estimating Time to the Common Ancestor for a Beneficial Allele",
author = "Smith, Joel and Coop, Graham and Stephens, Matthew and Novembre,
John",
abstract = "The haplotypes of a beneficial allele carry information about its
history that can shed light on its age and the putative cause for
its increase in frequency. Specifically, the signature of an
allele's age is contained in the pattern of variation that
mutation and recombination impose on its haplotypic background.
We provide a method to exploit this pattern and infer the time to
the common ancestor of a positively selected allele following a
rapid increase in frequency. We do so using a hidden Markov model
which leverages the length distribution of the shared ancestral
haplotype, the accumulation of derived mutations on the ancestral
background, and the surrounding background haplotype diversity.
Using simulations, we demonstrate how the inclusion of
information from both mutation and recombination events increases
accuracy relative to approaches that only consider a single type
of event. We also show the behavior of the estimator in cases
where data do not conform to model assumptions, and provide some
diagnostics for assessing and improving inference. Using the
method, we analyze population-specific patterns in the 1000
Genomes Project data to estimate the timing of adaptation for
several variants which show evidence of recent selection and
functional relevance to diet, skin pigmentation, and morphology
in humans.",
journal = "Mol. Biol. Evol.",
volume = 35,
number = 4,
pages = "1003--1017",
month = apr,
year = 2018,
language = "en"
}
@ARTICLE{Voight2006,
title = "A Map of Recent Positive Selection in the Human Genome",
author = "Voight, Benjamin F AND Kudaravalli, Sridhar AND Wen, Xiaoquan AND Pritchard, Jonathan K",
abstract = "The identification of signals of very recent positive selection provides information about the adaptation of modern humans to local conditions. We report here on a genome-wide scan for signals of very recent positive selection in favor of variants that have not yet reached fixation. We describe a new analytical method for scanning single nucleotide polymorphism (SNP) data for signals of recent selection, and apply this to data from the International HapMap Project. In all three continental groups we find widespread signals of recent positive selection. Most signals are region-specific, though a significant excess are shared across groups. Contrary to some earlier low resolution studies that suggested a paucity of recent selection in sub-Saharan Africans, we find that by some measures our strongest signals of selection are from the Yoruba population. Finally, since these signals indicate the existence of genetic variants that have substantially different fitnesses, they must indicate loci that are the source of significant phenotypic variation. Though the relevant phenotypes are generally not known, such loci should be of particular interest in mapping studies of complex traits. For this purpose we have developed a set of SNPs that can be used to tag the strongest ∼250 signals of recent selection in each population.",
journal = "PLOS Biology",
volume = 4,
number = 3,
pages = "",
month = mar,
year = 2006,
language = "en"
}
@ARTICLE{Dixon2015-xa,
title = "{CORAL} {REEFS}. Genomic determinants of coral heat tolerance
across latitudes",
author = "Dixon, Groves B and Davies, Sarah W and Aglyamova, Galina A and
Meyer, Eli and Bay, Line K and Matz, Mikhail V",
abstract = "As global warming continues, reef-building corals could avoid
local population declines through ``genetic rescue'' involving
exchange of heat-tolerant genotypes across latitudes, but only if
latitudinal variation in thermal tolerance is heritable. Here, we
show an up-to-10-fold increase in odds of survival of coral
larvae under heat stress when their parents come from a warmer
lower-latitude location. Elevated thermal tolerance was
associated with heritable differences in expression of oxidative,
extracellular, transport, and mitochondrial functions that
indicated a lack of prior stress. Moreover, two genomic regions
strongly responded to selection for thermal tolerance in
interlatitudinal crosses. These results demonstrate that
variation in coral thermal tolerance across latitudes has a
strong genetic basis and could serve as raw material for natural
selection.",
journal = "Science",
volume = 348,
number = 6242,
pages = "1460--1462",
month = jun,
year = 2015,
language = "en"
}