Product and Compatibility Information

Included

• local compatibility checking and genome analysis in the browser
• direct comparison with 6,317 released archaeogenetic individuals
• absolute and relative YRI outgroup-f3 similarity values
• culture rankings using the documented release method
• licence, persistently importable results, report and contract confirmation

Not included

The purchased DNA comparison evaluates genetic similarity to archaeogenetic individuals and culture groups and determines the paternal and maternal haplogroup. The following are expressly not included:

• trait models of any kind, in particular pigmentation, OCEAN or personality, lactase, metabolism, muscle type and COMT
• height and intelligence estimates
• disease risk, diagnosis, treatment or medication decisions
• paternity, kinship or parentage determination
• statements for insurers, employers or public authorities

Supported files

23andMe, AncestryDNA, MyHeritage, FamilyTreeDNA, Living DNA, Sequencing.com Ultimate Compatibility, tellmeGen, generic rsID/chromosome/position/genotype tables, and VCF and complete gVCF versions 4.0–4.5 for GRCh37 and GRCh38 are supported. Multiple genotype columns are merged automatically only when a strict within-file concordance check proves that they are callers for the same genetic person; genuine multi-person VCFs remain excluded. Containers may be plain text, CSV/TSV, GZIP, BGZF or ZIP with exactly one usable genome file.

gVCF reference blocks are evaluated automatically without local conversion when they cover at least 2.4 billion autosomal bases across at least 20 autosomes and mark at least 90 per cent of those block bases callable. The check is file-wide; the remaining possible lack of callability is disclosed in the result as a coarser file basis. Sequencing.com whole-genome gVCFs are therefore directly usable when the per-file check passes.

Complete whole-genome VCFs that emit variants only are supported for GRCh37 and GRCh38 when they pass the per-file measured checks (panel coverage and heterozygous share inside the range of a complete genome, and agreement of their own reference declarations with the build-specific comparison index); omitted positions are then scored as homozygous reference and this basis is disclosed in the result. Gencove/loimpute VCFs declaring b37_g1k are recognised as GRCh37; genotypes marked LOWCONF do not contribute to scientific results and are considered only for the local identity proof.

Not supported

• multi-sample VCF
• encrypted ZIP files or archives with several genome candidates
• incomplete or sparse gVCFs whose reference blocks fail the minimum autosomal-coverage and callability thresholds
• variants-only VCFs that fail the measured checks for reference decoding (panel coverage or heterozygous share outside the range of a complete single genome, or insufficient agreement with the build-specific reference index)
• BAM, CRAM and FASTQ
• indel- or structural-variant-only files
• unknown builds or insufficient autosomal coverage

Coverage and limits

Before purchase, at least 50,000 usable overlaps with the 1240K panel, a recognised build and sufficient identity markers are required. Individual similarity comparisons may have higher method-specific coverage gates.

Missing markers are not guessed. For arrays and ordinary VCFs only explicitly stated genotypes count. In a complete gVCF that passes the file-wide coverage and callability checks, panel positions not emitted as variants are decoded as homozygous reference; the remaining possible lack of callability is disclosed in the result as a coarser file basis. For a GRCh37 or GRCh38 whole-genome variant callset that passes the per-file measured checks, omitted panel positions are likewise scored as homozygous reference. Both bases reflect the respective variant caller's documented way of stating a result, not an estimate from population data. A file that fails these checks is rejected; an all-sites or panel-sites export with explicit genotypes remains an alternative.

Technical requirements

• current Chromium, Firefox or Safari with JavaScript and WebAssembly
• sufficient free memory and temporary storage
• reliable connection for the initial approximately 2 GB reference download
• Chromium may preserve a file handle; Firefox and Safari require file selection again after restart

Local data and result file

The raw file, raw calls, results and map position do not leave the browser for analysis. The unencrypted downloaded result package contains sensitive derived genetic results and must be protected accordingly, but contains no raw SNP list.

Scientific interpretation

Expressly experimental model validation. Not medical advice or a diagnosis.

Similarity to archaeogenetic individuals is a population-genetic comparison. It does not prove direct descent from a find, membership of a historical culture or specific family relationship.

Licence and future

Purchase permits unlimited local use of the purchased release for the same genetic person. The details are set out in the Terms and Licence Conditions; statutory rights remain unaffected.