Publications

Brady Tucker, Elizabeth Aguilar and Daniel Gurnon

See how the Rare Genomics Institute (RGI) is using Fabric Genomics' (formerly Omicia) Opal interpretation platform for exome analysis of 3 patients.  "Data analysis is performed with Omicia Opal, a web-based genome interpretation and reporting software platform integrating the machine learning algorithms VAAST and Phevor. We summarize our use of the Omicia Opal platform in three cases that represent the range of outcomes that can result from exome analysis; in one case we identified a likely pathogenic variant in the RDH12, associated with Leber’s congenital amourosis; in a second case we identified a possibly pathogenic variant in IFT140, associated with Jeune syndrome; and in a third case we identified variants of uncertain significance in genes associated with Sotos and Weaver syndrome. Opal integrates VAAST and Phevor algorithms."

Publications

Hao Hu, Jared C. Roach, Hilary Coon, Stephen L. Guthery, Karl V. Voelkerding, Rebecca L. Margraf, Jacob D. Durtschi, Sean V. Tavtigian, Shankaracharya, Wilfred Wu, Paul Scheet, Shuoguo Wang, Jinchuan Xing, Gustavo Glusman, Robert Hubley, Hong Li, Vidu Garg, Barry Moore, Leroy Hood, David J Galas, Deepak Srivastava, Martin G Reese, Lynn B Jorde, Mark Yandell, Chad D. Huff

Nat Biotechnol. 2014 May 18. doi: 10.1038/nbt.2895.
Pubmed Abstract
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