Abdulmoein Eid Al-Agha, Ihab Abdulhamed Ahmed, Esther Nuebel, Mika Moriwaki, Barry Moore, Katherine A Peacock, Tim Mosbruger, Deborah W Neklason, Lynn B Jorde, Mark Yandell, Corrine K Welt

"Genomic Analysis Data were analyzed using Opal 4.15 (Fabric Genomics, Inc., Oakland, CA) in a four-person VAAST cohort
analysis including the affected sisters ( …Clinical analysis of genome next-generation sequencing data using the Omicia platform."

"The Phenotype Driven Variant Ontological Re-ranking tool (Phevor)(26) was used to re-rank the prioritized genes using premature ovarian failure and POI as
Human Phenotype Ontology seed terms (27)."

"Intervention DNA was subjected to whole genome sequencing. Shared regions of homozygosity were identified using Truploidy and prioritized using the Variant Annotation, Analysis and Search Tool (VAAST) with control data from 387 healthy subjects …"

The Journal of Clinical Endocrinology & Metabolism, jc.2017-01966, Dec. 12, 2017
Pubmed Abstract

Data Sheets

Fabric Genomics' genomic analysis tools support both somatic and hereditary interpretation and reporting, providing a single seamless platform for both secondary and tertiary analysis.


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.  

BJOG 2017; DOI: 10.1111/1471-0528.14485.
Pubmed Abstract


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.

Gene, Volume 595, Issue 2, 31 December 2016, Pages 131–141
Pubmed Abstract


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."