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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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Compressed Sparse FM-Index: Fast Sequence Alignment Using Large K-Steps.

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    We introduce COFI, a Compressed FM-Index, to overcome memory limitations in genomic sequence searching. COFI enables efficient large k-step searches on human genomes, improving performance on modern hardware.

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    Area of Science:

    • Bioinformatics
    • Computational Genomics
    • Data Structures

    Background:

    • The FM-index is crucial for exact sequence searching in large reference genomes.
    • Existing FM-index algorithms suffer from irregular memory access, leading to memory-bound performance issues.
    • Current implementations face throughput-memory trade-offs, limiting the use of large k-steps.

    Purpose of the Study:

    • To address the memory limitations of FM-index implementations for large k-steps.
    • To propose and evaluate COFI (COmpressed FM-Index) for enhanced genomic sequence searching.
    • To demonstrate COFI's efficiency on human genome data and modern computing architectures.

    Main Methods:

    • Analysis of FM-index memory access patterns and throughput-memory trade-offs.
    • Development of COFI, a compressed FM-index designed for large k-steps.
    • Evaluation of a COFI-based algorithm on Knights Landing (KNL) and Skylake (SKX) systems.

    Main Results:

    • COFI enables a 15-step FM-index using under 16 GB for a 3 Gbp human genome.
    • Average speed-ups of 1.46x on KNL and 1.39x on SKX were achieved compared to a state-of-the-art implementation.
    • COFI effectively overcomes memory constraints for large k-step FM-index applications.

    Conclusions:

    • COFI significantly improves the efficiency of FM-index based sequence searching by reducing memory requirements.
    • The proposed compressed FM-index offers substantial performance gains on modern hardware architectures.
    • COFI represents a practical advancement for large-scale genomic data analysis.