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Distribution, functional impact, and origin mechanisms of copy number variation in the barley genome
BACKGROUND There is growing evidence for the prevalence of copy number variation (CNV) and its role in phenotypic variation in many eukaryotic species. Here we use array comparative genomic hybridization to explore the extent of this type of structural variation in domesticated barley cultivars and wild barleys. RESULTS A collection of 14 barley genotypes including eight cultivars and six wild barleys were used for comparative genomic hybridization. CNV affects 14.9% of all the sequences that were assessed. Higher levels of CNV diversity are present in the wild accessions relative to cultivated barley. CNVs are enriched near the ends of all chromosomes except 4H, which exhibits the lowest frequency of CNVs. CNV affects 9.5% of the coding sequences represented on the array and the genes affected by CNV are enriched for sequences annotated as disease-resistance proteins and protein kinases. Sequence-based comparisons of CNV between cultivars Barke and Morex provided evidence that DNA repair mechanisms of double-strand breaks via single-stranded annealing and synthesis-dependent strand annealing play an important role in the origin of CNV in barley. CONCLUSIONS We present the first catalog of CNVs in a diploid Triticeae species, which opens the door for future genome diversity research in a tribe that comprises the economically important cereal species wheat, barley, and rye. Our findings constitute a valuable resource for the identification of CNV affecting genes of agronomic importance. We also identify potential mechanisms that can generate variation in copy number in plant genomes.This work was financially supported by the following grants:
project GABI-BARLEX, German Federal Ministry of Education and Research
(BMBF), #0314000 to MP, US, KFXM and NS; Triticeae Coordinated
Agricultural Project, USDA-NIFA #2011-68002-30029 to GJM; and Agriculture
and Food Research Initiative Plant Genome, Genetics and Breeding Program
of USDA’s Cooperative State Research and Extension Service, #2009-65300-
05645 to GJM
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novoBreak: local assembly for breakpoint detection in cancer genomes.
We present novoBreak, a genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genome sequencing data. novoBreak consistently outperformed existing algorithms on real cancer genome data and on synthetic tumors in the ICGC-TCGA DREAM 8.5 Somatic Mutation Calling Challenge primarily because it more effectively utilized reads spanning breakpoints. novoBreak also demonstrated great sensitivity in identifying short insertions and deletions
SInC: An accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data
We report SInC (SNV, Indel and CNV) simulator and read generator, an
open-source tool capable of simulating biological variants taking into account
a platform-specific error model. SInC is capable of simulating and generating
single- and paired-end reads with user-defined insert size with high efficiency
compared to the other existing tools. SInC, due to its multi-threaded
capability during read generation, has a low time footprint. SInC is currently
optimised to work in limited infrastructure setup and can efficiently exploit
the commonly used quad-core desktop architecture to simulate short sequence
reads with deep coverage for large genomes. Sinc can be downloaded from
https://sourceforge.net/projects/sincsimulator/
Detecting simultaneous variant intervals in aligned sequences
Given a set of aligned sequences of independent noisy observations, we are
concerned with detecting intervals where the mean values of the observations
change simultaneously in a subset of the sequences. The intervals of changed
means are typically short relative to the length of the sequences, the subset
where the change occurs, the "carriers," can be relatively small, and the sizes
of the changes can vary from one sequence to another. This problem is motivated
by the scientific problem of detecting inherited copy number variants in
aligned DNA samples. We suggest a statistic based on the assumption that for
any given interval of changed means there is a given fraction of samples that
carry the change. We derive an analytic approximation for the false positive
error probability of a scan, which is shown by simulations to be reasonably
accurate. We show that the new method usually improves on methods that analyze
a single sample at a time and on our earlier multi-sample method, which is most
efficient when the carriers form a large fraction of the set of sequences. The
proposed procedure is also shown to be robust with respect to the assumed
fraction of carriers of the changes.Comment: Published in at http://dx.doi.org/10.1214/10-AOAS400 the Annals of
Applied Statistics (http://www.imstat.org/aoas/) by the Institute of
Mathematical Statistics (http://www.imstat.org
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