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Oxford University Press (OUP), Bioinformatics, 10(30), p. 1464-1466

DOI: 10.1093/bioinformatics/btu026

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h5vc: scalable nucleotide tallies with HDF5

Journal article published in 2014 by Paul Theodor Pyl, Julian Gehring, Bernd Fischer, Wolfgang Huber ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Summary: As applications of genome sequencing, including exomes and whole genomes, are expanding, there is a need for analysis tools that are scalable to large sets of samples and/or ultra-deep coverage. Many current tool chains are based on the widely used file formats BAM and VCF or VCF-derivatives. However, for some desirable analyses, data management with these formats creates substantial implementation overhead, and much time is spent parsing files and collating data. We observe that a tally data structure, i.e. the table of counts of nucleotides × samples × strands × genomic positions, provides a reasonable intermediate level of abstraction for many genomics analyses, including single nucleotide variant (SNV) and InDel calling, copy-number estimation and mutation spectrum analysis. Here we present h5vc, a data structure and associated software for managing tallies. The software contains functionality for creating tallies from BAM files, flexible and scalable data visualization, data quality assessment, computing statistics relevant to variant calling and other applications. Through the simplicity of its API, we envision making low-level analysis of large sets of genome sequencing data accessible to a wider range of researchers.