WHITE PAPER: Next-Generation Sequencing results from genomic DNA extracted from whole blood samples using the FlexiGene precipitation chemistry on the AutoGen FlexSTAR+
Eric White, Christopher Gault, Edgardo Lopez, Brian Quirbach, Lindsey Zuidema, Nichole Napolitano and John Thompson. Claritas Genomics, Inc., Cambridge, MA 02139
Claritas Genomics is a commercial genetic testing laboratory specializing in diagnosis of rare pediatric genetic disease. Claritas is accredited by CLIA, ISO 15189, New York, California, and many other states to perform clinical whole exome sequencing (WES), the Claritas Clinical Exome (CCE), and phenotype defined region of interest (ROI) panels derived from the CCE. The Claritas approach performs WES on two independent Next-Generation Sequencing platforms, NextSeq by Illumina and Ion Torrent Proton by Thermo Fisher Scientific. Results are combined to increase assay sensitivity and provide rapid orthogonal confirmation of variants thereby decreasing the Sanger sequencing confirmation burden by nearly 95%.