Study

Performance Characteristics of Selective Targeted Enrichment in Genetic Diagnostic Testing

Study ID Alternative Stable ID Type
phs000798 Control Set

Study Description

The Nex-StoCT and ACMG recommend that validation of an NGS-based diagnostic test include performance test characteristics for assay accuracy, analytical sensitivity and specificity, reproducibility and repeatability. To measure these parameters for the GEDi capture and sequencing test, 4 samples (three randomly selected patient samples and the NA12878 HapMap sample) were prepared and sequenced in triplicate on each of three separate days. We also performed WES and SNP array genotyping analyses of these 4 samples using Agilent V4+UTR whole exome enrichment kit and Illumina Omni 2.5 SNP arrays, respectively.

Archive Link Archive Accession
dbGaP phs000798

Who archives the data?

There are no publications available