An example of Fabric GEM integrating with ultra-rapid whole genome sequencing to provide automated interpretation for kids in the NICU
A successful demonstration of dried blood spot usage as input material for rare disease studies using whole genome sequencing
The application of Fabric Enterprise in a study of the impact of genetics on clinical outcomes of subjects with congenital heart defects
A comparison of outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test shows high sensitivity for the panel screening approach
Successful demonstration of archived dried blood spot (DBS) as a sample type for WGS in population genomic studies.
See how Fabric Genomics's platform (Omicia's Opal) was used for whole exome sequencing data interpretation.
"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 (https://app.omicia.com/) …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 …"
Variants were annotated and analyzed in Opal Clinical (Fabric Genomics- formerly Omicia.)
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.
See how Fabric Genomics' (formerly Omicia) Opal and Omicia's VAAST Trio Report algorithm was used.
See how Fabric Genomics' (formerly Omicia) Opal 4.8.0 was used for annotation and filtering.
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].
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.
