RCC-PDXovo-RenalCellCarcinoma-WXS-mapped-reads - samples
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ABSTRACT:
PROVIDER: EGAD00001003589 | EGA |
REPOSITORIES: EGA
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2024-04-04 | GSE255233 | GEO
Project description:UnlabelledWe describe a tool for quantifying the uniformity of mapped reads in high-throughput sequencing experiments. Our statistic directly measures the uniformity of both read position and fragment length, and we explain how to compute a P-value that can be used to quantify biases arising from experimental protocols and mapping procedures. Our method is useful for comparing different protocols in experiments such as RNA-Seq.Availability and implementationWe provide a freely available and open source python script that can be used to analyze raw read data or reads mapped to transcripts in BAM format at http://www.math.miami.edu/~vhower/ReadSpy.html.
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Project description:The advent of high-throughput sequencing has enabled sequencing based measurements of cellular function, with an individual measurement potentially consisting of more than 108 reads. While tools are available for aligning sets of reads to genomes and interpreting the results, fewer tools have been developed to address the storage and retrieval requirements of large collections of aligned datasets. We present ReadDB, a network accessible column store database system for aligned high-throughput read datasets.ReadDB stores collections of aligned read positions and provides a client interface to support visualization and analysis. ReadDB is implemented as a network server that responds to queries on genomic intervals in an experiment with either the set of contained reads or a histogram based interval summary. Tests on datasets ranging from 105 to 108 reads demonstrate that ReadDB performance is generally within a factor of two of local-storage based methods and often three to five times better than other network-based methods.ReadDB is a high-performance foundation for ChIP-Seq and RNA-Seq analysis. The client-server model provides convenient access to compute cluster nodes or desktop visualization software without requiring a shared network filesystem or large amounts of local storage. The client code provides a simple interface for fast data access to visualization or analysis. ReadDB provides a new way to store genome-aligned reads for use in applications where read sequence and alignment mismatches are not needed.
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Project description:MotivationStructural variants are defined as genomic variants larger than 50 bp. They have been shown to affect more bases in any given genome than single-nucleotide polymorphisms or small insertions and deletions. Additionally, they have great impact on human phenotype and diversity and have been linked to numerous diseases. Due to their size and association with repeats, they are difficult to detect by shotgun sequencing, especially when based on short reads. Long read, single-molecule sequencing technologies like those offered by Pacific Biosciences or Oxford Nanopore Technologies produce reads with a length of several thousand base pairs. Despite the higher error rate and sequencing cost, long-read sequencing offers many advantages for the detection of structural variants. Yet, available software tools still do not fully exploit the possibilities.ResultsWe present SVIM, a tool for the sensitive detection and precise characterization of structural variants from long-read data. SVIM consists of three components for the collection, clustering and combination of structural variant signatures from read alignments. It discriminates five different variant classes including similar types, such as tandem and interspersed duplications and novel element insertions. SVIM is unique in its capability of extracting both the genomic origin and destination of duplications. It compares favorably with existing tools in evaluations on simulated data and real datasets from Pacific Biosciences and Nanopore sequencing machines.Availability and implementationThe source code and executables of SVIM are available on Github: github.com/eldariont/svim. SVIM has been implemented in Python 3 and published on bioconda and the Python Package Index.Supplementary informationSupplementary data are available at Bioinformatics online.
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Project description:Ultra-fast transcriptional responses in plants
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Project description:BackgroundRNA sequencing (RNA-seq) is a powerful tool for genome-wide expression profiling of biological samples with the advantage of high-throughput and high resolution. There are many existing algorithms nowadays for quantifying expression levels and detecting differential gene expression, but none of them takes the misaligned reads that are mapped to non-exonic regions into account. We developed a novel algorithm, XBSeq, where a statistical model was established based on the assumption that observed signals are the convolution of true expression signals and sequencing noises. The mapped reads in non-exonic regions are considered as sequencing noises, which follows a Poisson distribution. Given measureable observed and noise signals from RNA-seq data, true expression signals, assuming governed by the negative binomial distribution, can be delineated and thus the accurate detection of differential expressed genes.ResultsWe implemented our novel XBSeq algorithm and evaluated it by using a set of simulated expression datasets under different conditions, using a combination of negative binomial and Poisson distributions with parameters derived from real RNA-seq data. We compared the performance of our method with other commonly used differential expression analysis algorithms. We also evaluated the changes in true and false positive rates with variations in biological replicates, differential fold changes, and expression levels in non-exonic regions. We also tested the algorithm on a set of real RNA-seq data where the common and different detection results from different algorithms were reported.ConclusionsIn this paper, we proposed a novel XBSeq, a differential expression analysis algorithm for RNA-seq data that takes non-exonic mapped reads into consideration. When background noise is at baseline level, the performance of XBSeq and DESeq are mostly equivalent. However, our method surpasses DESeq and other algorithms with the increase of non-exonic mapped reads. Only in very low read count condition XBSeq had a slightly higher false discovery rate, which may be improved by adjusting the background noise effect in this situation. Taken together, by considering non-exonic mapped reads, XBSeq can provide accurate expression measurement and thus detect differential expressed genes even in noisy conditions.
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Project description:SummaryAlthough the ability to programmatically summarize and visually inspect sequencing data is an integral part of genome analysis, currently available methods are not capable of handling large numbers of samples. In particular, making a visual comparison of transcriptional landscapes between two sets of thousands of RNA-seq samples is limited by available computational resources, which can be overwhelmed due to the sheer size of the data. In this work, we present TieBrush, a software package designed to process very large sequencing datasets (RNA, whole-genome, exome, etc.) into a form that enables quick visual and computational inspection. TieBrush can also be used as a method for aggregating data for downstream computational analysis, and is compatible with most software tools that take aligned reads as input.Availability and implementationTieBrush is provided as a C++ package under the MIT License. Precompiled binaries, source code and example data are available on GitHub (https://github.com/alevar/tiebrush).Supplementary informationSupplementary data are available at Bioinformatics online.
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Project description:We present a new approach to automatic training of a eukaryotic ab initio gene finding algorithm. With the advent of Next-Generation Sequencing, automatic training has become paramount, allowing genome annotation pipelines to keep pace with the speed of genome sequencing. Earlier we developed GeneMark-ES, currently the only gene finding algorithm for eukaryotic genomes that performs automatic training in unsupervised ab initio mode. The new algorithm, GeneMark-ET augments GeneMark-ES with a novel method that integrates RNA-Seq read alignments into the self-training procedure. Use of 'assembled' RNA-Seq transcripts is far from trivial; significant error rate of assembly was revealed in recent assessments. We demonstrated in computational experiments that the proposed method of incorporation of 'unassembled' RNA-Seq reads improves the accuracy of gene prediction; particularly, for the 1.3 GB genome of Aedes aegypti the mean value of prediction Sensitivity and Specificity at the gene level increased over GeneMark-ES by 24.5%. In the current surge of genomic data when the need for accurate sequence annotation is higher than ever, GeneMark-ET will be a valuable addition to the narrow arsenal of automatic gene prediction tools.
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Project description:BackgroundRNA sequencing methods have already altered our view of the extent and complexity of bacterial and eukaryotic transcriptomes, revealing rare transcript isoforms (circular RNAs, RNA chimeras) that could play an important role in their biology.ResultsWe performed an analysis of chimera formation by four different computational approaches, including a custom designed pipeline, to study the transcriptomes of M. pneumoniae and P. aeruginosa, as well as mixtures of both. We found that rare transcript isoforms detected by conventional pipelines of analysis could be artifacts of the experimental procedure used in the library preparation, and that they are protocol-dependent.ConclusionBy using a customized pipeline we show that optimal library preparation protocol and the pipeline to analyze the results are crucial to identify real chimeric RNAs.
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