Ritu Kamal, et al, Fabric Genomics
Ritu Kamal, et al, Fabric Genomics
WEBINAR: Thurs. Sept. 28, 10AM PDT
This webinar will discuss the critical role of genomic interpretation software for clinical labs looking to establish comprehensive NGS testing programs. Accurate and fast software for variant calling, alignment, interpretation, and clinical reporting is an essential component of genomic medicine, with the potential to significantly impact patient outcomes and improve healthcare economics
In this webinar, Shareef Nahas of Rady Children’s Institute for Genomic Medicine (RCIGM) will present various case studies that demonstrate how Fabric Genomics’ Opal Clinical software helps achieve accurate and rapid whole-genome interpretation of disease-causing variants in critically ill children.
WEBINAR: Wed. Sept. 13, 10AM PDT
Key Webinar Topics
-Save time on variant interpretation & reporting on gene panels
-Accurately interpret variants with quality citations and comprehensive annotations
-Expand your testing volume with a scalable platform that adjusts as your sample volume grows and/or you add exomes/genomes
-Implement enterprise solutions such as EMR/LIMS integrations, custom lab reports & workflows and CLIA and CAP compliance programs
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."
Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Serge Batalov, David M Dimmock, RCIGM Investigators and Stephen F Kingsmore
Variants were annotated and analyzed in Opal Clinical (Fabric Genomics- formerly Omicia.)
Lauge Farnaes, Shareef A Nahas, Shimul Chowdhury, James Nelson, Serge Batalov, David Dimmock, Stephen F. Kingsmore, and RCIGM Investigators
Variants were annotated and analyzed in Opal Clinical (Fabric Genomics - formerly Omicia.) Clinical analysis of genome next-generation sequencing data used the Fabric Genomics- formerly Omicia platform.
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].
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJ
See how Fabric Genomics' (formerly Omicia) Opal and Omicia's VAAST Trio Report algorithm was used.