mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications

Cataloged from PDF version of article.High throughput sequencing (HTS) platforms generate unprecedented amounts of data that introduce challenges for processing and downstream analysis. While tools that report the 'best' mapping location of each read provide a fast way to process HTS data, they are not suitable for many types of downstream analysis such as structural variation detection, where it is important to report multiple mapping loci for each read. For this purpose we introduce mrsFAST-Ultra, a fast, cache oblivious, SNP-aware aligner that can handle the multi-mapping of HTS reads very efficiently. mrsFAST-Ultra improves mrsFAST, our first cache oblivious read aligner capable of handling multi-mapping reads, through new and compact index structures that reduce not only the overall memory usage but also the number of CPU operations per alignment. In fact the size of the index generated by mrsFAST-Ultra is 10 times smaller than that of mrsFAST. As importantly, mrsFAST-Ultra introduces new features such as being able to (i) obtain the best mapping loci for each read, and (ii) return all reads that have at most n mapping loci (within an error threshold), together with these loci, for any user specified n. Furthermore, mrsFAST-Ultra is SNP-aware, i.e. it can map reads to reference genome while discounting the mismatches that occur at common SNP locations provided by db-SNP; this significantly increases the number of reads that can be mapped to the reference genome. Notice that all of the above features are implemented within the index structure and are not simple post-processing steps and thus are performed highly efficiently. Finally, mrsFAST-Ultra utilizes multiple available cores and processors and can be tuned for various memory settings. Our results show that mrsFAST-Ultra is roughly five times faster than its predecessor mrsFAST. In comparison to newly enhanced popular tools such as Bowtie2, it is more sensitive (it can report 10 times or more mappings per read) and much faster (six times or more) in the multi-mapping mode. Furthermore, mrsFAST-Ultra has an index size of 2GB for the entire human reference genome, which is roughly half of that of Bowtie2. mrsFAST-Ultra is open source and it can be accessed at http://mrsfast.sourceforge.net

Dissect: detection and characterization of novel structural alterations in transcribed sequences

Motivation: Computational identification of genomic structural variants via high-throughput sequencing is an important problem for which a number of highly sophisticated solutions have been recently developed. With the advent of high-throughput transcriptome sequencing (RNA-Seq), the problem of identifying structural alterations in the transcriptome is now attracting significant attention

Discovery and genotyping of novel sequence insertions in many sequenced individuals

Motivation: Despite recent advances in algorithms design to characterize structural variation using high-throughput short read sequencing (HTS) data, characterization of novel sequence insertions longer than the average read length remains a challenging task. This is mainly due to both computational difficulties and the complexities imposed by genomic repeats in generating reliable assemblies to accurately detect both the sequence content and the exact location of such insertions. Additionally, de novo genome assembly algorithms typically require a very high depth of coverage, which may be a limiting factor for most genome studies. Therefore, characterization of novel sequence insertions is not a routine part of most sequencing projects. There are only a handful of algorithms that are specifically developed for novel sequence insertion discovery that can bypass the need for the whole genome de novo assembly. Still, most such algorithms rely on high depth of coverage, and to our knowledge there is only one method (PopIns) that can use multi-sample data to "collectively" obtain a very high coverage dataset to accurately find insertions common in a given population. Result: Here, we present Pamir, a new algorithm to efficiently and accurately discover and genotype novel sequence insertions using either single or multiple genome sequencing datasets. Pamir is able to detect breakpoint locations of the insertions and calculate their zygosity (i.e. heterozygous versus homozygous) by analyzing multiple sequence signatures, matching one-end-anchored sequences to small-scale de novo assemblies of unmapped reads, and conducting strand-aware local assembly. We test the efficacy of Pamir on both simulated and real data, and demonstrate its potential use in accurate and routine identification of novel sequence insertions in genome projects. © 2017 The Author. Published by Oxford University Press. All rights reserved

Effects of Dietary Distillers Dried Grains with Solubles and Soybean Meal on Extruded Pellet Characteristics and Growth Responses of Juvenile Yellow Perch

A 126-d feeding trial was performed to investigate graded combinations of distillers dried grains with solubles (DDGS) and soybean meal (SBM) in diets formulated for yellow perch Perca flavescens. Six experimental diets contained DDGS and SBM at 0 and 31.5% (dry matter basis), respectively (0/31.5 diet), 10 and 26% (10/26), 20 and 20.5% (20/20.5), 30 and 15% (30/15), 40 and 9.5% (40/9.5), and 50 and 4% (50/4) to obtain similar levels of crude protein (mean ± SE = 30.1 ± 0.2%), crude lipid (16.7 ± 0.7%), and digestible energy (13.5 ± 0.2 kJ/g). Fourteen fish (initial individual weight = 19.1 ± 0.5 g) were randomly selected and stocked into each of twenty-four 110-L tanks (4 replicate tanks/diet). Common biological and mechanical filter systems were used to recirculate the water and maintain similar water quality. Fish that received the 40/9.5 diet exhibited the highest apparent absolute weight gain and percent weight gain, while fish that were fed the 10/26, 20/20.5, 30/15, and 40/9.5 diets exhibited similar absolute weight gain. Fish that were given the 20/20.5, 30/15, and 40/9.5 diets also exhibited similar percent weight gain. Fulton’s condition factor and apparent protein digestibility were significantly lower and higher, respectively, for fish that received the 50/4 diet than for all other treatment groups. Crude protein and crude lipid levels in muscle samples did not significantly differ among treatment groups. Results indicated that yellow perch can utilize DDGS plus SBM at a combined inclusion level of up to 49.5% without negative effects on growth. The mechanical strength and color of the extruded pellets were related to the level of DDGS plus SBM in the feed blends. Hepatosomatic indices were correlated with pellet color, while protein digestibility decreased with increasing pellet strength

Barut-Girardello coherent states for u(p,q) and sp(N,R) and their macroscopic superpositions

The Barut-Girardello coherent states (BG CS) representation is extended to the noncompact algebras u(p,q) and sp(N,R) in (reducible) quadratic boson realizations. The sp(N,R) BG CS take the form of multimode ordinary Schr\"odinger cat states. Macroscopic superpositions of 2^{n-1} sp(N,R) CS (2^n canonical CS, n=1,2,...) are pointed out which are overcomplete in the N-mode Hilbert space and the relation between the canonical CS and the u(p,q) BG-type CS representations is established. The sets of u(p,q) and sp(N,R) BG CS and their discrete superpositions contain many states studied in quantum optics (even and odd N-mode CS, pair CS) and provide an approach to quadrature squeezing, alternative to that of intelligent states. New subsets of weakly and strongly nonclassical states are pointed out and their statistical properties (first- and second-order squeezing, photon number distributions) are discussed. For specific values of the angle parameters and small amplitude of the canonical CS components these states approaches multimode Fock states with one, two or three bosons/photons. It is shown that eigenstates of a squared non-Hermitian operator A^2 (generalized cat states) can exhibit squeezing of the quadratures of A.Comment: 29 pages, LaTex, 5 figures. Improvements in text, corrections in some formulas. To appear in J. Phys. A, v. 3

Robertson Intelligent States

Diagonalization of uncertainty matrix and minimization of Robertson inequality for n observables are considered. It is proved that for even n this relation is minimized in states which are eigenstates of n/2 independent complex linear combinations of the observables. In case of canonical observables this eigenvalue condition is also necessary. Such minimizing states are called Robertson intelligent states (RIS). The group related coherent states (CS) with maximal symmetry (for semisimple Lie groups) are particular case of RIS for the quadratures of Weyl generators. Explicit constructions of RIS are considered for operators of su(1,1), su(2), h_N and sp(N,R) algebras. Unlike the group related CS, RIS can exhibit strong squeezing of group generators. Multimode squared amplitude squeezed states are naturally introduced as sp(N,R) RIS. It is shown that the uncertainty matrices for quadratures of q-deformed boson operators a_{q,j} (q > 0) and of any k power of a_j = a_{1,j} are positive definite and can be diagonalized by symplectic linear transformations. PACS numbers: 03.65.Fd, 42.50.DvComment: 23 pages, LaTex. Minor changes in text and references. Accepted in J. Phys.

On the evolution of superposition of squeezed displaced number states with the multiphoton Jaynes-Cummings model

In this paper we discuss the quantum properties for superposition of squeezed displaced number states against multiphoton Jaynes-Cummings model (JCM). In particular, we investigate atomic inversion, photon-number distribution, purity, quadrature squeezing, Mandel $Q$ parameter and Wigner function. We show that the quadrature squeezing for three-photon absorption case can exhibit revivals and collapses typical to those occurring in the atomic inversion for one-photon absorption case. Also we prove that for odd number absorption parameter there is a connection between the evolution of the atomic inversion and the evolution of the Wigner function at the origin in phase space. Furthermore, we show that the nonclassical states whose the Wigner functions values at the origins are negative will be always nonclassical when they are evolving through the JCM with even absorption parameter. Also we demonstrate that various types of cat states can be generated via this system.Comment: 27 pages, 10 figure

Superhard Phases of Simple Substances and Binary Compounds of the B-C-N-O System: from Diamond to the Latest Results (a Review)

The basic known and hypothetic one- and two-element phases of the B-C-N-O system (both superhard phases having diamond and boron structures and precursors to synthesize them) are described. The attention has been given to the structure, basic mechanical properties, and methods to identify and characterize the materials. For some phases that have been recently described in the literature the synthesis conditions at high pressures and temperatures are indicated.Comment: Review on superhard B-C-N-O phase