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Evaluation of the reference-free SNP detection tool DiscoSnp

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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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