Article
Finding functional disease-associated non-coding variation using next-generation sequencing
2016-06-22
Abstract excerpt
<h4>ABSTRACT</h4> Next generation sequencing has opened the way for the large scale interrogation of cohorts at the whole exome, or whole genome level. Currently, the field largely focuses on potential disease causing variants that fall within coding sequences and that are predicted to cause protein sequence changes, generally discarding non-coding variants. However non-coding DNA makes up ~ 98% of the genome an...
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Identifiers and source
- Literature Corpus work
- 940bae57-625f-5a32-908a-5f66b932348f
- DOI
- 10.1101/060285