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...

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Bibliographic Details
Main Author: Ånäs, Sofia
Format: Others
Language:English
Published: 2017
Subjects:
Online Access:http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-328745