Posters

Sequence to Clinical Report: Enabling Rapid Variant Analysis and Clinical Interpretation for Somatic NGS Testing

CAP 2017 Poster #102

Ritu Kamal, et al, Fabric Genomics

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Publications

Rapid whole genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick Type C1 Disease in a 7 week old male with cholestasis

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.)

Cold Spring Harbor Molecular Case Studies; May 2017
Pubmed Abstract
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