The problem of sequence identification or matching--determining the subset of reference sequences from a givencollection that are likely to contain a short, queried nucleotide sequence--is relevant for many important tasksin Computational Biology, such as metagenomics and pangenome analysis. Due to the complex nature of such analysesand the large scale of the reference collections a resource-efficient solution to this problem is of utmost importance.This poses the threefold challenge of representing the reference collection with a data structure that is efficientto query, has light memory usage, and scales well to large collections. To solve this problem, we describe an efficientcolored de Bruijn graph index, arising as the combination of a k-mer dictionary with a compressed inverted index. Theproposed index takes full advantage of the fact that unitigs in the colored compacted de Bruijn graph are monochromatic(i.e., all k-mers in a unitig have the same set of references of origin, or color). Specifically, the unitigs are keptin the dictionary in color order, thereby allowing for the encoding of the map from k-mers to their colors in as littleas 1 + o(1) bits per unitig. Hence, one color per unitig is stored in the index with almost no space/time overhead. Bycombining this property with simple but effective compression methods for integer lists, the index achieves verysmall space. We implement these methods in a tool called Fulgor, and conduct an extensive experimental analysisto demonstrate the improvement of our tool over previous solutions. For example, compared to Themisto--thestrongest competitor in terms of index space vs. query time trade-off--Fulgor requires significantly less space (upto 43% less space for a collection of 150,000 Salmonella enterica genomes), is at least twice as fast for color queries,and is 2-6× faster to construct.
Fulgor: a fast and compact k-mer index for large-scale matching and color queries
Pibiri GE;
2024
Abstract
The problem of sequence identification or matching--determining the subset of reference sequences from a givencollection that are likely to contain a short, queried nucleotide sequence--is relevant for many important tasksin Computational Biology, such as metagenomics and pangenome analysis. Due to the complex nature of such analysesand the large scale of the reference collections a resource-efficient solution to this problem is of utmost importance.This poses the threefold challenge of representing the reference collection with a data structure that is efficientto query, has light memory usage, and scales well to large collections. To solve this problem, we describe an efficientcolored de Bruijn graph index, arising as the combination of a k-mer dictionary with a compressed inverted index. Theproposed index takes full advantage of the fact that unitigs in the colored compacted de Bruijn graph are monochromatic(i.e., all k-mers in a unitig have the same set of references of origin, or color). Specifically, the unitigs are keptin the dictionary in color order, thereby allowing for the encoding of the map from k-mers to their colors in as littleas 1 + o(1) bits per unitig. Hence, one color per unitig is stored in the index with almost no space/time overhead. Bycombining this property with simple but effective compression methods for integer lists, the index achieves verysmall space. We implement these methods in a tool called Fulgor, and conduct an extensive experimental analysisto demonstrate the improvement of our tool over previous solutions. For example, compared to Themisto--thestrongest competitor in terms of index space vs. query time trade-off--Fulgor requires significantly less space (upto 43% less space for a collection of 150,000 Salmonella enterica genomes), is at least twice as fast for color queries,and is 2-6× faster to construct.File | Dimensione | Formato | |
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Descrizione: Fulgor: a fast and compact k-mer index for large-scale matching and color queries
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