Text based methods for variant prioritization
Despite improvements in sequencing technologies, DNA sequence variant interpretation for rare genetic diseases remains challenging. In a typical workflow for the Treatable Intellectual Disability Endeavor in B.C. (TIDE BC), a geneticist examines variant calls to establish a set of candidate variants...
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| Language: | English |
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University of British Columbia
2017
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| Online Access: | http://hdl.handle.net/2429/60358 |