Method & science

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DNAHelper analyzes raw data files from consumer DNA tests directly in your browser — no files are uploaded. Here we explain how variants are linked to published research, what the evidence strength means and where the limits are.

How the analysis works

  1. Your variant. DNAHelper reads your raw data file locally and identifies which SNPs (rsIDs) are present in the file.
  2. Research association. Each variant is matched against our internal index of published genetic associations — primarily from GWAS Catalog, supplemented with curated literature. The index covers over 430,000 variants and thousands of traits.
  3. Evidence assessment. Results show direction, strength and source for each association, so you can see the difference between well-supported findings and weaker signals.
  4. Understandable result. Everything is presented in plain English or Swedish, with the option to ask follow-up questions in DNA Chat.

How to read a result card

Each result shows three separate facts. They measure different things and should not be combined.

  • Research support: strong, moderate or limited. A catalog classification of the studies behind the trait — not a measure of how certain your personal result is. Strong means at least 5 studies in GWAS Catalog and at least 3 associated variants. Moderate means at least 2 studies or at least 2 variants. Everything else is limited.
  • "X of Y catalog markers". Share of the trait's markers found in your file — not the probability that the result is correct. Missing markers are listed in the detail view; most often they were simply not measured by your provider's chip.
  • Direction label: Typical, Deviates upward, Deviates downward or No direction label. Shows which direction your combination of variants points compared to the typical range — never severity, risk level or diagnosis.

Important limitations

  • Genetic associations are probabilities, not certain outcomes. A variant linked to a trait does not mean you have or will develop it.
  • Research quality varies. Study size, population and replication affect how much an association should weigh.
  • Most GWAS studies are done on participants of European ancestry. Associations — especially polygenic risk scores — may be weaker or lack validity for you with a different genetic background.
  • Genetics is only one factor — environment, lifestyle and other circumstances often play a larger role.
  • Most consumer DNA tests cover only part of the genome. A variant not present in your file cannot be analyzed.

What DNAHelper is not

DNAHelper is not a medical test, is not clinically validated and is not intended to diagnose, prevent or treat disease. Results are informative and educational. For medical questions — always talk to healthcare professionals or a genetic counselor.

Updates

The research index is updated as new data is processed. Calculations run in your browser against the version of the index loaded at analysis time.