A comparative validation of the human variant simulator SIMdrom
The past decade’s progress in next generation sequencing has drastically decreased the price of whole genome and exome sequencing, making it available as a clinical tool for diagnosing patients with genetic disease. However, finding a disease-causing mutation among millions of non-pathogenic variant...
Main Author: | Ånäs, Sofia |
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Format: | Others |
Language: | English |
Published: |
2017
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Subjects: | |
Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-328745 |
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