Evaluation of the reference-free SNP detection tool DiscoSnp
Title: | Evaluation of the reference-free SNP detection tool DiscoSnp |
Author(s): | Söderholm, Marcus |
Contributor: | University of Helsinki, Faculty of Science, Department of Computer Science |
Language: | English |
Acceptance year: | 2017 |
Abstract: |
As sequencing costs decline and an increasing amount of genetic data without reference genome is produced there is a need for new reference-free methods for detecting genetic variation. This thesis defines the biological problem of variant detection, introduces some of the tools previously used for solving the issue, and takes an in-depth look at the new reference-free method DiscoSnp. Several test cases were run to assess the programs performance with different input variables.
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Faculty of Science [4026]