7,668 research outputs found
netgwas: An R Package for Network-Based Genome-Wide Association Studies
Graphical models are powerful tools for modeling and making statistical
inferences regarding complex associations among variables in multivariate data.
In this paper we introduce the R package netgwas, which is designed based on
undirected graphical models to accomplish three important and interrelated
goals in genetics: constructing linkage map, reconstructing linkage
disequilibrium (LD) networks from multi-loci genotype data, and detecting
high-dimensional genotype-phenotype networks. The netgwas package deals with
species with any chromosome copy number in a unified way, unlike other
software. It implements recent improvements in both linkage map construction
(Behrouzi and Wit, 2018), and reconstructing conditional independence network
for non-Gaussian continuous data, discrete data, and mixed
discrete-and-continuous data (Behrouzi and Wit, 2017). Such datasets routinely
occur in genetics and genomics such as genotype data, and genotype-phenotype
data. We demonstrate the value of our package functionality by applying it to
various multivariate example datasets taken from the literature. We show, in
particular, that our package allows a more realistic analysis of data, as it
adjusts for the effect of all other variables while performing pairwise
associations. This feature controls for spurious associations between variables
that can arise from classical multiple testing approach. This paper includes a
brief overview of the statistical methods which have been implemented in the
package. The main body of the paper explains how to use the package. The
package uses a parallelization strategy on multi-core processors to speed-up
computations for large datasets. In addition, it contains several functions for
simulation and visualization. The netgwas package is freely available at
https://cran.r-project.org/web/packages/netgwasComment: 32 pages, 9 figures; due to the limitation "The abstract field cannot
be longer than 1,920 characters", the abstract appearing here is slightly
shorter than that in the PDF fil
GIVE: portable genome browsers for personal websites.
Growing popularity and diversity of genomic data demand portable and versatile genome browsers. Here, we present an open source programming library called GIVE that facilitates the creation of personalized genome browsers without requiring a system administrator. By inserting HTML tags, one can add to a personal webpage interactive visualization of multiple types of genomics data, including genome annotation, "linear" quantitative data, and genome interaction data. GIVE includes a graphical interface called HUG (HTML Universal Generator) that automatically generates HTML code for displaying user chosen data, which can be copy-pasted into user's personal website or saved and shared with collaborators. GIVE is available at: https://www.givengine.org/
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study
© 2014 The Authors. Arthritis & Rheumatology is published by Wiley Periodicals, Inc. on behalf of the American College of Rheumatology.Peer reviewedPublisher PD
Second-generation PLINK: rising to the challenge of larger and richer datasets
PLINK 1 is a widely used open-source C/C++ toolset for genome-wide
association studies (GWAS) and research in population genetics. However, the
steady accumulation of data from imputation and whole-genome sequencing studies
has exposed a strong need for even faster and more scalable implementations of
key functions. In addition, GWAS and population-genetic data now frequently
contain probabilistic calls, phase information, and/or multiallelic variants,
none of which can be represented by PLINK 1's primary data format.
To address these issues, we are developing a second-generation codebase for
PLINK. The first major release from this codebase, PLINK 1.9, introduces
extensive use of bit-level parallelism, O(sqrt(n))-time/constant-space
Hardy-Weinberg equilibrium and Fisher's exact tests, and many other algorithmic
improvements. In combination, these changes accelerate most operations by 1-4
orders of magnitude, and allow the program to handle datasets too large to fit
in RAM. This will be followed by PLINK 2.0, which will introduce (a) a new data
format capable of efficiently representing probabilities, phase, and
multiallelic variants, and (b) extensions of many functions to account for the
new types of information.
The second-generation versions of PLINK will offer dramatic improvements in
performance and compatibility. For the first time, users without access to
high-end computing resources can perform several essential analyses of the
feature-rich and very large genetic datasets coming into use.Comment: 2 figures, 1 additional fil
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Recent evidence that TADs and chromatin loops are dynamic structures.
Mammalian genomes are folded into spatial domains, which regulate gene expression by modulating enhancer-promoter contacts. Here, we review recent studies on the structure and function of Topologically Associating Domains (TADs) and chromatin loops. We discuss how loop extrusion models can explain TAD formation and evidence that TADs are formed by the ring-shaped protein complex, cohesin, and that TAD boundaries are established by the DNA-binding protein, CTCF. We discuss our recent genomic, biochemical and single-molecule imaging studies on CTCF and cohesin, which suggest that TADs and chromatin loops are dynamic structures. We highlight complementary polymer simulation studies and Hi-C studies employing acute depletion of CTCF and cohesin, which also support such a dynamic model. We discuss the limitations of each approach and conclude that in aggregate the available evidence argues against stable loops and supports a model where TADs are dynamic structures that continually form and break throughout the cell cycle
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