Publications

Rapid whole genome sequencing identifies a novel GABRA1 variant associated with West syndrome

Cold Spring Harbor Molecular Case Studies; May 2017
Pubmed Abstract

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.

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Publications

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

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.

Mol Genet Metab. 2017 Apr;120(4):342-349
Pubmed Abstract
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