A bioinformatic workflow for analyzing whole genomes in rare Mendelian disease

The vast majority of the human genome (~98%) is non-coding. A symphony of non-coding sequences resides in the genome, interacting with genes and the environment to tune gene expression. Functional non-coding sequences include enhancers, silencers, promoters, non-coding RNA and insulators. Variat...

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Bibliographic Details
Main Author: Couse, Madeline Hazel
Language:English
Published: University of British Columbia 2017
Online Access:http://hdl.handle.net/2429/61332