Skip to main content

Table 1 Summary of assessments and numbers of specimens included in each study

From: Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Sample cohort Assessment
Reportable range Accuracy Precision Interlab concordance Limit of detection Extraction performance Molecular index performance Assay fail rate
Blood-derived patient samples n/a 376 271 n/a n/a n/a n/a 30
Blood-derived healthy donor aliquots 5 n/a 84 28 21 15 28 28
GIAB reference cell lines 1 18 n/a n/a 37 n/a 37 37
Cell lines with known HDR variants 30 65 48 48 n/a n/a 30 30
CDC GeT-RM PGx cell lines 68 310 186 186 n/a n/a 164 175
Historical blood-derived WGS data n/a n/a n/a n/a n/a n/a n/a 25,028
  1. This table summarizes the samples that were used for each set of comparisons that comprise this study. Many samples were sequenced in replicate either across the genome centers or within them and these counts reflect replicates, not unique samples
  2. GIAB Genome in a Bottle [15], HDR hereditary disease risk, CDC United States Centers for Disease Control and Prevention, GeT-RM Genetic Testing Reference Materials Coordination Program [16], PGx pharmacogenomics, WGS whole-genome sequencing