Anthony Fejes, Ph.D. et al, Fabric Genomics
Anthony Fejes, Ph.D. et al, Fabric Genomics
Anna Lewis, Ph.D. et al, Fabric Genomics
Melanie Babcock, Ph.D. et al, Fabric Genomics
Wenjie Chen, Ph.D. et al, LabCorp – Integrated Genetics
Amber Hildreth, D.O. et al, Rady Children’s Institute for Genomic Medicine
John Phillips III, M.D. et al, Vanderbilt University Medical Center & UDN
Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.
See how Fabric Genomics' (formerly Omicia) Opal 4.8.0 was used for annotation and filtering.
Mika Moriwaki, Barry Moore, Timothy Mosbruger, Deborah W. Neklason, Mark Yandell, Lynn B. Jorde, Corrine K. Welt
Data was analyzed using Omicia Opal (now known as Fabric Genomics) in a three-person cohort analysis including the proband, mother, and daughter. The software prioritizes variants using the Variant Annotation, Analysis and Search Tool (VAAST)...Mutations were prioritized by the Fabric Genomics' score (aka Omicia score) which ranks variants according to expected protein effects using SIFT (http://sift.jcvi.org/), Mutation Taster (http://www.mutationtaster.org/), PolyPhen (http://genetics.bwh.harvard.edu/pph2), and phyloP [17–19]. In both analyses, the Phenotype Driven Variant Ontological Re-ranking tool (Phevor) feature was used to further prioritize genes for analysis using premature ovarian failure and POI as filters [8, 20].
TA Manuck, WS Watkins, MS Esplin, J Biggio, R Bukowski, S Parry, H Zhan, H Huang, W Andrews, G Saade, Y Sadovsky, UM Reddy, J Ilekis, M Yandell, MW Varner, LB Jorde, and for the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Genomics and Proteomics Network for Preterm Birth Research (GPN-PBR)
Read how Fabric Genomics' (formerly Omicia) VAAST algorithm was used to determine genetic differences in women with recurrent preterm birth despite 17-P treatment.
István Bocka, Krisztina Némethb, Klára Pentelényic, Péter Baliczac, Anna Balázsb, Mária Judit Molnárc, Viktor Románd, József Nagye, György Lévayf, Julianna Koboláka, András Dinnyésa
Fabric Genomics' (formerly Omicia) Opal clinical genetic interpretation software was used to identify an EHMT1 mutation in autism. "Phenotypic effects of the final candidate variants were evaluated using the ACMG guidelines & Omicia Opal." Opal has integrated the most up-to-date ACMG classification guidelines in the software.
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."
Arindam Bhattacharjee,Tanya Sokolsky, Stacia K. Wyman, Martin G. Reese, Erik Puffenberger, Kevin Strauss, Holmes Morton, Richard B. Parad, Edwin W. Naylor
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
Brett Kennedy, Zev Kronenberg, Hao Hu, Barry Moore, Steven Flygare, Martin G. Reese, Lynn B. Jorde, Mark Yandell, Chad Huff
Tracy A. Manuck, W. Scott Watkins, Barry Moore, M. Sean Esplin, Michael W. Varner, G. Marc Jackson, Mark Yandell, Lynn Jorde
Marc V. Singleton, Stephen L. Guthery, Karl V. Voelkerding, Karin Chen, Brett Kennedy, Rebecca L. Margraf, Jacob Durtschi, Karen Eilbeck, Martin G. Reese, Lynn B. Jorde, Chad D. Huff, Mark Yandell
Jason A. O’Rawe, Han Fang, Shawn Rynearson, Reid Robison, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Martin G. Reese, Gholson J. Lyon
Hao Hu, Chad D. Huff, Barry Moore, Steven Flygare, Martin G. Reese, Mark Yandell
Emily M. Coonrod, Rebecca L. Margraf, Archie Russell, Karl V. Voelkerding, Martin G. Reese
Michael D. Shapiro, Zev Kronenberg, Cai Li, Eric T. Domyan, Hailin Pan, Michael Campbell, Hao Tan, Chad D. Huff, Haofu Hu, Anna I. Vickrey, Sandra C. A. Nielsen, Sydney A. Stringham, Hao Hu, Eske Willerslev, M. Thomas P. Gilbert, Mark Yandell, Guojie Zhang, Jun Wang