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

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

Sample cohort	Assessment
Sample cohort	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

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
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

ISSN: 1756-994X