GenomeLens

Public whole-genome demonstration

HG003 · Genome in a Bottle

Sanitized public demonstration generated from an end-to-end GenomeLens analysis of publicly released Genome in a Bottle data.
This public report contains a selected allowlist of results from the analysis. It is not the production GenomeLens report and does not expose the private analysis engine.

Dataset provenance

Source

Genome in a Bottle

Reference build

GRCh38

Benchmark release

v4.2.1

Benchmark scope

chr1-22

External benchmark

Concordant

187/187

Explicit truth calls

187

Mismatches

Normalization failures

Concordance is measured on positions where the truth set states a genotype, inside the defined confident regions. It is not whole-genome accuracy, not clinical validation, and not an endorsement by NIST or GIAB.

Selected genomic results

Finding	Category	Disposition	Evidence basis
Celiac Disease Susceptibility (second-most-common allele) carrier -- susceptibility_allele	carrier	unresolved	curated clinical evidence
Below-median longevity composite (improvement headroom)	longevity	conditional	published association evidence
CYP2C19 Rapid Metabolizer (RM) (clopidogrel)	pharmacogenomics	conditional	published pharmacogenomic guideline evidence

A representative selection, one per category. The full sanitized analysis contains more results than are shown here.

Health-economic results

Reference-case NMB

$1,497.24

Canonical expected NMB

$3,588.00

Incremental cost

$388.53

Incremental QALYs

0.0189

ICER

20,603

Probability cost-effective

80.7%

Note

Reference-case and canonical pathway results answer different questions and are never summed.

Evidence basis. Genomic findings rest on curated clinical evidence; published association evidence; published pharmacogenomic guideline evidence. The economic figures are modeled estimates built on published evidence and stated assumptions, not realized savings.

For nontechnical readers. These results are a research demonstration of what GenomeLens can produce from real whole-genome data. The benchmark measures agreement only at the specific GIAB locations tested and is not a claim of whole-genome or clinical accuracy. The health-economic figures are modeled estimates based on published evidence and assumptions; they are not a diagnosis, medical advice, or a statement that a genome is literally “worth” a particular dollar amount.

Scope and limitations

Public demonstration output; not clinical validation.
Benchmark scope is limited to the stated GIAB panel and chr1-22.
Modeled economics are not realized savings.
Representative findings only; the full sanitized report is the complete output.