Daten und Bedingungen
Echte Patientendaten dürfen in dieser Demo niemals eingegeben werden.
GIAB- und 1000-Genomes-Proben sind nicht mit Synthea-Patienten verknüpft. Die Forschungsebene und die klinische Ebene bleiben getrennt.
Die klinischen Datensätze sind Synthea-Ausgabe. Die Standardgeografie von Synthea ist Massachusetts in den Vereinigten Staaten. Es sind keine europäischen Patienten.
Dieser Host hat keine Sandbox für eigene Daten. Die Software lässt sich lokal ausführen. Eine Sandbox ist hier nicht deployt.
Auf dem Laptop geprüft, noch nicht auf einem öffentlichen Host.
HELIOS-Signatur-Public-Key
Signierte HELIOS-Berichte dieser Demo werden gegen einen Ed25519-Public-Key geprüft. SHA-256 der Public-Key-Datei: fe3a4604ec534b28672148b3aba58ca85863626fa4114a5af954924fc620dda1. Erstnutzung (UTC-Datum): 2026-10-11. Auditorinnen und Auditoren können /helios-report.json herunterladen und die Signatur gegen diesen Schlüssel prüfen (Trust Store oder helios validate).
fe3a4604ec534b28672148b3aba58ca85863626fa4114a5af954924fc620dda1
Bei einer Rotation zeigt diese Seite den neuen Fingerprint und das Datum; der vorherige Public Key wird als retired archiviert (siehe docs/RUNBOOK.md). Ein Demo-Reset rotiert den Schlüssel nicht.
| Quelle | Art | Bytes | Bedingungen | Zitat |
|---|---|---|---|---|
| HG001_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 125932193 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG001_GRCh38_1_22_v4.2.1_benchmark.bed | public reference, GIAB NIST benchmark | 15479939 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG002_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 156252944 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG002_GRCh38_1_22_v4.2.1_benchmark_noinconsistent.bed | public reference, GIAB NIST benchmark | 11494021 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG003_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 147212428 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG003_GRCh38_1_22_v4.2.1_benchmark_noinconsistent.bed | public reference, GIAB NIST benchmark | 13219856 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG004_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 148948118 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG004_GRCh38_1_22_v4.2.1_benchmark_noinconsistent.bed | public reference, GIAB NIST benchmark | 13081043 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG005_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 139334496 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG005_GRCh38_1_22_v4.2.1_benchmark.bed | public reference, GIAB NIST benchmark | 18615340 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG006_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 117161667 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG006_GRCh38_1_22_v4.2.1_benchmark.bed | public reference, GIAB NIST benchmark | 15762527 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG007_GRCh38_1_22_v4.2.1_benchmark.vcf.gz | public reference, GIAB NIST benchmark | 118171165 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| HG007_GRCh38_1_22_v4.2.1_benchmark.bed | public reference, GIAB NIST benchmark | 16208979 | NIST GIAB FAQ: data may be used with no embargo. Cite the dataset README and https://www.nature.com/articles/sdata201625. Benchmarks also cite https://www.nature.com/articles/s41587-019-0054-x. NIST works of employees are not subject to US copyright under 17 USC 105. See docs/SEED.md. | Zook et al., Scientific Data 2016, https://doi.org/10.1038/sdata.2016.25; Krusche et al., Nature Biotechnology 2019, https://doi.org/10.1038/s41587-019-0054-x |
| chr21.fna.gz | public reference genome, chromosome 21 only | 11119238 | NCBI genomes FTP README for GCA_000001405.15 contains no licence paragraph. Assembly report header: Assembly name: GRCh38; Description: Genome Reference Consortium Human Build 38; Organism name: Homo sapiens (human); Taxid: 9606; BioProject: PRJNA168; Submitter: Genome Reference Consortium; Date: 2013-12-17; Synonyms: hg38. This file is chromosome 21 only, not the full assembly. | NCBI assembly GCA_000001405.15 (GRCh38), chromosome 21 only |
| ALL.chr21.phase3.first5.vcf.gz | public reference, 1000 Genomes subset | 17288199 | IGSR disclaimer (https://www.internationalgenome.org/IGSR_disclaimer): Data from the 1000 Genomes Project is now available without embargo, following the final publication from the project. Use of the data should be cited in the usual way. The phase3 callset README (README_phase3_callset_20150220) describes the release and does not itself state a licence. The citation page says the Nature paper is CC-BY-NC-SA 3.0; that sentence is about the paper, not a licence this demo assigns to the VCF. | The 1000 Genomes Project Consortium, A global reference for human genetic variation, Nature 526, 68-74 (2015), doi:10.1038/nature15393. File ALL.chr21.phase3_shapeit2_mvncall_integrated_v5b.20130502.genotypes.vcf.gz. |
| beacon-chr21-first500-snv.vcf.gz | public reference, beacon-sized extract | 9999 | IGSR disclaimer (https://www.internationalgenome.org/IGSR_disclaimer): Data from the 1000 Genomes Project is now available without embargo, following the final publication from the project. Use of the data should be cited in the usual way. The phase3 callset README (README_phase3_callset_20150220) describes the release and does not itself state a licence. The citation page says the Nature paper is CC-BY-NC-SA 3.0; that sentence is about the paper, not a licence this demo assigns to the VCF. | The 1000 Genomes Project Consortium, A global reference for human genetic variation, Nature 526, 68-74 (2015), doi:10.1038/nature15393. File ALL.chr21.phase3_shapeit2_mvncall_integrated_v5b.20130502.genotypes.vcf.gz. |
| synthetic-cohort | synthetic | None | Invented cohort. Not people. | s4-showcase seed/synthetic/cohort.json |
| synthetic-variants | synthetic | None | Invented VCF sites. Not GIAB. | s4-showcase seed/synthetic/variants.vcf |
| synthetic-regions | synthetic | None | Invented BED intervals. | s4-showcase seed/synthetic/regions.bed |
| Synthea patients | synthetic clinical | None | Generated locally. Synthea default geography is the United States. Not linked to GIAB or 1000 Genomes. | Synthea jar sha256:018ad7f04f7aacb995804d7d4781c76d5fc714f7f23257ba50daa9eefae224ac, release id 372490833, seed 42, population 30. |