Genomic

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Performance Characteristics of Selective Targeted Enrichment in Genetic Diagnostic Testing

ABSTRACT:

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.

PROVIDER: phs000798 | dbGaP |

SECONDARY ACCESSION(S): PRJNA261991PRJNA261992

REPOSITORIES: dbGaP

Json Xml

Dataset's files

Source:
Action DRS
GapExchange_phs000798.v1.p1.xml Xml
dbGaPEx2.1.5.xsd Other
Study_Report.phs000798.GeneticDiagnosticTesting.v1.p1.MULTI.pdf Pdf
manifest_phs000798.GeneticDiagnosticTesting.v1.p1.c1.GRU-NPU.pdf Pdf
datadict_v2.xsl Other
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