Reference-free Association Mapping from Sequencing Reads Using k-mers

Autor: Zakaria Mehrab, Jaiaid Mobin, Ibrahim Tahmid, Lior Pachter, Atif Rahman
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Bio-Protocol, Vol 10, Iss 21 (2020)
Druh dokumentu: article
ISSN: 2331-8325
DOI: 10.21769/BioProtoc.3815
Popis: Association mapping is the process of linking phenotypes with genotypes. In genome wide association studies (GWAS), individuals are first genotyped using microarrays or by aligning sequenced reads to reference genomes. However, both these approaches rely on reference genomes which limits their application to organisms with no or incomplete reference genomes. To address this, reference free association mapping methods have been developed. Here we present the protocol of an alignment free method for association studies which is based on counting k-mers in sequenced reads, testing for associations between k-mers and the phenotype of interest, and local assembly of the k-mers of statistical significance. The method can map associations of categorical phenotypes to sequence and structural variations without requiring prior sequencing of reference genomes.
Databáze: Directory of Open Access Journals