Article ; Online: Efficient association mapping from k-mers-An application in finding sex-specific sequences.
PloS one
2021 Volume 16, Issue 1, Page(s) e0245058
Abstract: ... free association mapping methods based on k-mers from sequencing reads. Here we present an improved implementation ...
Abstract | Genome wide association studies (GWAS) attempt to map genotypes to phenotypes in organisms. This is typically performed by genotyping individuals using microarray or by aligning whole genome sequencing reads to a reference genome. Both approaches require knowledge of a reference genome which hinders their application to organisms with no or incomplete reference genomes. This caveat can be removed by using alignment-free association mapping methods based on k-mers from sequencing reads. Here we present an improved implementation of an alignment free association mapping method. The new implementation is faster and includes additional features to make it more flexible than the original implementation. We have tested our implementation on an E. Coli ampicillin resistance dataset and observe improvement in execution time over the original implementation while maintaining accuracy in results. We also demonstrate that the method can be applied to find sex specific sequences. |
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MeSH term(s) | Algorithms ; Ampicillin Resistance/genetics ; Escherichia coli/genetics ; Female ; Genome, Bacterial ; Genome-Wide Association Study ; Humans ; Male ; Phenotype ; Sequence Analysis, DNA ; Whole Genome Sequencing |
Language | English |
Publishing date | 2021-01-07 |
Publishing country | United States |
Document type | Journal Article |
ISSN | 1932-6203 |
ISSN (online) | 1932-6203 |
DOI | 10.1371/journal.pone.0245058 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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