763 research outputs found
Gene-history correlation and population structure
Correlation of gene histories in the human genome determines the patterns of
genetic variation (haplotype structure) and is crucial to understanding genetic
factors in common diseases. We derive closed analytical expressions for the
correlation of gene histories in established demographic models for genetic
evolution and show how to extend the analysis to more realistic (but more
complicated) models of demographic structure. We identify two contributions to
the correlation of gene histories in divergent populations: linkage
disequilibrium, and differences in the demographic history of individuals in
the sample. These two factors contribute to correlations at different length
scales: the former at small, and the latter at large scales. We show that
recent mixing events in divergent populations limit the range of correlations
and compare our findings to empirical results on the correlation of gene
histories in the human genome.Comment: Revised and extended version: 26 pages, 5 figures, 1 tabl
How Many Subpopulations is Too Many? Exponential Lower Bounds for Inferring Population Histories
Reconstruction of population histories is a central problem in population
genetics. Existing coalescent-based methods, like the seminal work of Li and
Durbin (Nature, 2011), attempt to solve this problem using sequence data but
have no rigorous guarantees. Determining the amount of data needed to correctly
reconstruct population histories is a major challenge. Using a variety of tools
from information theory, the theory of extremal polynomials, and approximation
theory, we prove new sharp information-theoretic lower bounds on the problem of
reconstructing population structure -- the history of multiple subpopulations
that merge, split and change sizes over time. Our lower bounds are exponential
in the number of subpopulations, even when reconstructing recent histories. We
demonstrate the sharpness of our lower bounds by providing algorithms for
distinguishing and learning population histories with matching dependence on
the number of subpopulations. Along the way and of independent interest, we
essentially determine the optimal number of samples needed to learn an
exponential mixture distribution information-theoretically, proving the upper
bound by analyzing natural (and efficient) algorithms for this problem.Comment: 38 pages, Appeared in RECOMB 201
Transplanting the leafy liverwort Herbertus hutchinsiae : A suitable conservation tool to maintain oceanic-montane liverwort-rich heath?
Thanks to the relevant landowners and managers for permission to carry out the experiments, Chris Preston for helping to obtain the liverwort distribution records and the distribution map, Gordon Rothero and Dave Horsfield for advice on choosing experimental sites and Alex Douglas for statistical advice. Juliane Geyer’s help with fieldwork was greatly appreciated. This study was made possible by a NERC PhD studentship and financial support from the Royal Botanic Garden Edinburgh and Scottish Natural Heritage.Peer reviewedPostprin
The climate of Mt Wilhelm
In 1966, the Australian National University with assistance
from the Bernice P. Bishop Museum, Hawaii, established a field station
beside the lower Pindaunde Lake at an altitude of 3480 m on the southeast
flank of Mt Wilhelm, the highest point in Papua New Guinea. The
field station has been used by a number of workers in the natural
sciences, many of whose publications are referred to later in this
work. The present volume arises from observations made by three
botanists and their collaborators when members of the Department of
Biogeography and Geomorphology, during the course of their work on
Mt Wilhelm while based on the ANU field station. It is the second in
the Departmental series describing the environment and biota of the
mountain, and will be followed by others dealing with different aspects
of its natural history
The variant call format and VCFtools
Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP and the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API
Globular Cluster Distance Determinations
The present status of the distance scale to Galactic globular clusters is
reviewed. Six distance determination techniques which are deemed to be most
reliable are discussed in depth. These different techniques are used to
calibrate the absolute magnitude of the RR Lyrae stars. The various
calibrations fall into three groups. Main sequence fitting using Hipparcos
parallaxes, theoretical HB models and the RR Lyrae in the LMC all favor a
bright calibration, implying a `long' globular cluster distance scale. White
dwarf fitting and the astrometric distances yield a somewhat fainter RR Lyrae
calibration, while the statistical parallax solution yields faint RR Lyrae
stars implying a `short' distance scale to globular clusters. Various secondary
distance indicators discussed all favor the long distance scale. The `long' and
`short' distance scales differ by (0.31+/-0.16) mag. Averaging together all of
the different distance determinations yields Mv(RR) = (0.23+/-0.04)([Fe/H] +
1.6) + (0.56+/-0.12) mag.Comment: Invited review article to appear in: `Post-Hipparcos Cosmic Candles',
A. Heck & F. Caputo (Eds), Kluwer Academic Publ., Dordrecht, in pres
Organellar inheritance in the green lineage: insights from Ostreococcus tauri
Along the green lineage (Chlorophyta and Streptophyta), mitochondria and chloroplast are mainly uniparentally transmitted and their evolution is thus clonal. The mode of organellar inheritance in their ancestor is less certain. The inability to make clear phylogenetic inference is partly due to a lack of information for deep branching organisms in this lineage. Here, we investigate organellar evolution in the early branching green alga Ostreococcus tauri using population genomics data from the complete mitochondrial and chloroplast genomes. The haplotype structure is consistent with clonal evolution in mitochondria, while we find evidence for recombination in the chloroplast genome. The number of recombination events in the genealogy of the chloroplast suggests that recombination, and thus biparental inheritance, is not rare. Consistent with the evidence of recombination, we find that the ratio of the number of nonsynonymous to the synonymous polymorphisms per site is lower in chloroplast than in the mitochondria genome. We also find evidence for the segregation of two selfish genetic elements in the chloroplast. These results shed light on the role of recombination and the evolutionary history of organellar inheritance in the green lineage
Recombination rate and selection strength in HIV intra-patient evolution
The evolutionary dynamics of HIV during the chronic phase of infection is
driven by the host immune response and by selective pressures exerted through
drug treatment. To understand and model the evolution of HIV quantitatively,
the parameters governing genetic diversification and the strength of selection
need to be known. While mutation rates can be measured in single replication
cycles, the relevant effective recombination rate depends on the probability of
coinfection of a cell with more than one virus and can only be inferred from
population data. However, most population genetic estimators for recombination
rates assume absence of selection and are hence of limited applicability to
HIV, since positive and purifying selection are important in HIV evolution.
Here, we estimate the rate of recombination and the distribution of selection
coefficients from time-resolved sequence data tracking the evolution of HIV
within single patients. By examining temporal changes in the genetic
composition of the population, we estimate the effective recombination to be
r=1.4e-5 recombinations per site and generation. Furthermore, we provide
evidence that selection coefficients of at least 15% of the observed
non-synonymous polymorphisms exceed 0.8% per generation. These results provide
a basis for a more detailed understanding of the evolution of HIV. A
particularly interesting case is evolution in response to drug treatment, where
recombination can facilitate the rapid acquisition of multiple resistance
mutations. With the methods developed here, more precise and more detailed
studies will be possible, as soon as data with higher time resolution and
greater sample sizes is available.Comment: to appear in PLoS Computational Biolog
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