An example of Fabric GEM integrating with ultra-rapid whole genome sequencing to provide automated interpretation for kids in the NICU
Describes the development and testing of an automated Newborn Screening assay benchmarked against results from 454,707 subjects from the UK Biobank
Review of AI technologies shows the power of Fabric GEM's variant prioritization and how it significantly reduces the number of potential genetic variants to review
In this abstract, Rady's compares results from their newborn screening platform, BeginNGS to rapid Whole genome sequencing results in the NICU and finds good sensitivity between the 2 methods.
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
Using Artificial Intelligence (AI) to address the costly and human intensive bottleneck of identifying and prioritizing critically ill infants for whole genome sequencing (WGS) in the NICU.
Successful demonstration of archived dried blood spot (DBS) as a sample type for WGS in population genomic studies.
In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent of infant mortality (41%). Treatments positively associated with outcomes were available for 30% of these genetic diseases.
Fabric GEM ranks >90% of causal genes in top 2 candidates and breaks ground by incorporating SVs and phenotypes in automated AI-driven analysis.
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].
