4,464 research outputs found
The inference of gene trees with species trees
Molecular phylogeny has focused mainly on improving models for the
reconstruction of gene trees based on sequence alignments. Yet, most
phylogeneticists seek to reveal the history of species. Although the histories
of genes and species are tightly linked, they are seldom identical, because
genes duplicate, are lost or horizontally transferred, and because alleles can
co-exist in populations for periods that may span several speciation events.
Building models describing the relationship between gene and species trees can
thus improve the reconstruction of gene trees when a species tree is known, and
vice-versa. Several approaches have been proposed to solve the problem in one
direction or the other, but in general neither gene trees nor species trees are
known. Only a few studies have attempted to jointly infer gene trees and
species trees. In this article we review the various models that have been used
to describe the relationship between gene trees and species trees. These models
account for gene duplication and loss, transfer or incomplete lineage sorting.
Some of them consider several types of events together, but none exists
currently that considers the full repertoire of processes that generate gene
trees along the species tree. Simulations as well as empirical studies on
genomic data show that combining gene tree-species tree models with models of
sequence evolution improves gene tree reconstruction. In turn, these better
gene trees provide a better basis for studying genome evolution or
reconstructing ancestral chromosomes and ancestral gene sequences. We predict
that gene tree-species tree methods that can deal with genomic data sets will
be instrumental to advancing our understanding of genomic evolution.Comment: Review article in relation to the "Mathematical and Computational
Evolutionary Biology" conference, Montpellier, 201
Distinguishing cause from effect using observational data: methods and benchmarks
The discovery of causal relationships from purely observational data is a
fundamental problem in science. The most elementary form of such a causal
discovery problem is to decide whether X causes Y or, alternatively, Y causes
X, given joint observations of two variables X, Y. An example is to decide
whether altitude causes temperature, or vice versa, given only joint
measurements of both variables. Even under the simplifying assumptions of no
confounding, no feedback loops, and no selection bias, such bivariate causal
discovery problems are challenging. Nevertheless, several approaches for
addressing those problems have been proposed in recent years. We review two
families of such methods: Additive Noise Methods (ANM) and Information
Geometric Causal Inference (IGCI). We present the benchmark CauseEffectPairs
that consists of data for 100 different cause-effect pairs selected from 37
datasets from various domains (e.g., meteorology, biology, medicine,
engineering, economy, etc.) and motivate our decisions regarding the "ground
truth" causal directions of all pairs. We evaluate the performance of several
bivariate causal discovery methods on these real-world benchmark data and in
addition on artificially simulated data. Our empirical results on real-world
data indicate that certain methods are indeed able to distinguish cause from
effect using only purely observational data, although more benchmark data would
be needed to obtain statistically significant conclusions. One of the best
performing methods overall is the additive-noise method originally proposed by
Hoyer et al. (2009), which obtains an accuracy of 63+-10 % and an AUC of
0.74+-0.05 on the real-world benchmark. As the main theoretical contribution of
this work we prove the consistency of that method.Comment: 101 pages, second revision submitted to Journal of Machine Learning
Researc
Mini-Workshop: Recent Developments in Statistical Methods with Applications to Genetics and Genomics
Recent progress in high-throughput genomic technologies has revolutionized the field of human genetics and promises to lead to important scientific advances. With new improvements in massively parallel biotechnologies, it is becoming increasingly more efficient to generate vast amounts of information at the genomics, transcriptomics, proteomics, metabolomics etc. levels, opening up as yet unexplored opportunities in the search for the genetic causes of complex traits. Despite this tremendous progress in data generation, it remains very challenging to analyze, integrate and interpret these data. The resulting data are high-dimensional and very sparse, and efficient statistical methods are critical in order to extract the rich information contained in these data. The major focus of the mini-workshop, entitled “Recent Developments in Statistical Methods with Applications to Genetics and Genomics”, has been on integrative methods. Relevant research questions included the optimal study design for integrative genomic analyses; appropriate handling and pre-processing of different types of omics data; statistical methods for integration of multiple types of omics data; adjustment for confounding due to latent factors such as cell or tissue heterogeneity; the optimal use of omics data to enhance or make sense of results identified through genetic studies; and statistical and computational strategies for analysis of multiple types of high-dimensional data
- …