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Open AccessJournal ArticleDOI

BamTools: a C++ API and toolkit for analyzing and managing BAM files.

TLDR
BamTools is a software suite for programmers and end users that facilitates research analysis and data management using BAM files and provides both the first C++ API publicly available for BAM file support as well as a command-line toolkit.
Abstract
Motivation: Analysis of genomic sequencing data requires efficient, easy-to-use access to alignment results and flexible data management tools (e.g. filtering, merging, sorting, etc.). However, the enormous amount of data produced by current sequencing technologies is typically stored in compressed, binary formats that are not easily handled by the text-based parsers commonly used in bioinformatics research. Results: We introduce a software suite for programmers and end users that facilitates research analysis and data management using BAM files. BamTools provides both the first C++ API publicly available for BAM file support as well as a command-line toolkit. Availability: BamTools was written in C++, and is supported on Linux, Mac OSX and MS Windows. Source code and documentation are freely available at http://github.org/pezmaster31/bamtools. Contact: ude.cb@edtenrab

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Shifting the limits in wheat research and breeding using a fully annotated reference genome

Rudi Appels, +207 more
- 17 Aug 2018 - 
TL;DR: This annotated reference sequence of wheat is a resource that can now drive disruptive innovation in wheat improvement, as this community resource establishes the foundation for accelerating wheat research and application through improved understanding of wheat biology and genomics-assisted breeding.
Journal ArticleDOI

DELLY: structural variant discovery by integrated paired-end and split-read analysis

TL;DR: An SV discovery method that integrates short insert paired-ends, long-range mate-pairs and split-read alignments to accurately delineate genomic rearrangements at single-nucleotide resolution, called DELLY, which enables to ascertain the full spectrum of genomic rearrANGements, including complex events.
Journal ArticleDOI

Tumor aneuploidy correlates with markers of immune evasion and with reduced response to immunotherapy

TL;DR: The relationships between SCNA levels, tumor mutations, and cancer hallmarks are examined to find that two hallmarks of cancer, cell proliferation and immune evasion, are predicted by distinct types of aneuploidy that likely act through distinct mechanisms.
Journal ArticleDOI

TransRate: reference-free quality assessment of de novo transcriptome assemblies

TL;DR: TransRate is a tool for reference-free quality assessment of de novo transcriptome assemblies using only the sequenced reads and the assembly as input and it is revealed that variance in the quality of the input data explains 43% of the variance inThe quality of published de noVO transcriptome assembly assemblies.
References
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Journal ArticleDOI

The Sequence Alignment/Map format and SAMtools

TL;DR: SAMtools as discussed by the authors implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments.
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

TL;DR: The GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas.
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BEDTools: a flexible suite of utilities for comparing genomic features

TL;DR: A new software suite for the comparison, manipulation and annotation of genomic features in Browser Extensible Data (BED) and General Feature Format (GFF) format, which allows the user to compare large datasets (e.g. next-generation sequencing data) with both public and custom genome annotation tracks.
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The Human Genome Browser at UCSC

TL;DR: A mature web tool for rapid and reliable display of any requested portion of the genome at any scale, together with several dozen aligned annotation tracks, is provided at http://genome.ucsc.edu.
Journal ArticleDOI

A Map of Human Genome Variation From Population-Scale Sequencing

TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
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