Veli Mäkinen

Djamal Belazzougui

Fabio Cunial

Alexandru I. Tomescu

The fundamental algorithms and data structures that power standard bioscience workflows, with rigorous computer science formulations.

Bioinformatics in the Era of High-Throughput Sequencing

Genome-Scale Algorithm Design

Guided by standard bioscience workflows in high-throughput sequencing analysis, this book for graduate students, researchers, and professionals in bioinformatics and computer science offers a unified presentation of genome-scale algorithms. This new edition covers the use of minimizers and other advanced data structures in pangenomics approaches.

High-throughput sequencing has revolutionised the field of biological sequence analysis. Its application has enabled researchers to address important biological questions, often for the first time. This book provides an integrated presentation of the fundamental algorithms and data structures that power modern sequence analysis workflows. The topics covered range from the foundations of biological sequence analysis (alignments and hidden Markov models), to classical index structures (k-mer indexes, suffix arrays and suffix trees), Burrows–Wheeler indexes, graph algorithms and a number of advanced omics applications. The chapters feature numerous examples, algorithm visualisations, exercises and problems, each chosen to reflect the steps of large-scale sequencing projects, including read alignment, variant calling, haplotyping, fragment assembly, alignment-free genome comparison, transcript prediction and analysis of metagenomic samples. Each biological problem is accompanied by precise formulations, providing graduate students and researchers in bioinformatics and computer science with a powerful toolkit for the emerging applications of high-throughput sequencing.

Biological Sequence Analysis in the Era of High-Throughput Sequencing

Provides an integrated picture of the latest developments in algorithmic techniques, with numerous worked examples, algorithm visualisations and exercises.

Fabio Cunial

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