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15 - Pangenomics

from Part V - Applications

Published online by Cambridge University Press:  28 September 2023

Veli Mäkinen
Affiliation:
University of Helsinki
Djamal Belazzougui
Affiliation:
Centre de Recherche sur l’Information Scientifique et Technique (CERIST), Algiers
Fabio Cunial
Affiliation:
Broad Institute, Massachusetts
Alexandru I. Tomescu
Affiliation:
University of Helsinki
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Summary

Several large-scale studies aim to build comprehensive catalogs of all the variants in a population, for example all the frequent variants in a species or all the variants in a group of individuals with a specific trait or disease. Such catalogs are the substrate for subsequent genome-wide association studies that aim to correlate variants to traits, and ultimately to personalized treatments. Such catalogs can also be leveraged for making basic analysis tasks, such as read alignment, using not just one reference genome but a pangenome data structure representing all genomes in the catalogue. The chapter gives an overview of different pangenome data structures and their applications. Selected data structures are covered in more depth, including the r-index.

Type
Chapter
Information
Genome-Scale Algorithm Design
Bioinformatics in the Era of High-Throughput Sequencing
, pp. 344 - 366
Publisher: Cambridge University Press
Print publication year: 2023

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  • Pangenomics
  • Veli Mäkinen, University of Helsinki, Djamal Belazzougui, Centre de Recherche sur l’Information Scientifique et Technique (CERIST), Algiers, Fabio Cunial, Broad Institute, Massachusetts, Alexandru I. Tomescu, University of Helsinki
  • Book: Genome-Scale Algorithm Design
  • Online publication: 28 September 2023
  • Chapter DOI: https://doi.org/10.1017/9781009341257.021
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  • Pangenomics
  • Veli Mäkinen, University of Helsinki, Djamal Belazzougui, Centre de Recherche sur l’Information Scientifique et Technique (CERIST), Algiers, Fabio Cunial, Broad Institute, Massachusetts, Alexandru I. Tomescu, University of Helsinki
  • Book: Genome-Scale Algorithm Design
  • Online publication: 28 September 2023
  • Chapter DOI: https://doi.org/10.1017/9781009341257.021
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Pangenomics
  • Veli Mäkinen, University of Helsinki, Djamal Belazzougui, Centre de Recherche sur l’Information Scientifique et Technique (CERIST), Algiers, Fabio Cunial, Broad Institute, Massachusetts, Alexandru I. Tomescu, University of Helsinki
  • Book: Genome-Scale Algorithm Design
  • Online publication: 28 September 2023
  • Chapter DOI: https://doi.org/10.1017/9781009341257.021
Available formats
×