How Aimosti re-analyses your genome

You bring whole-genome data you already own. We run it through a fixed, versioned pipeline and show you what public databases say about your variants, with each claim attributed to its source. We never take a sample, sequence, test, or diagnose. Every clinically relevant match is reported the same way: this is a literature match, not a diagnosis. Confirm it with a clinician and a targeted, validated gene test before acting on it.

The pipeline, step by step

1. Ingest & detect. We read your uploaded file, detect its format and genome build, and check which sample it contains.
2. Normalise to GRCh38. Variants are left-aligned and normalised (and lifted over if needed) to one reference build, so every lookup is coordinate-exact.
3. Annotate. We annotate against current public databases: consequence prediction plus clinical and population-frequency context.
4. Restrict to curated panels. Matching is bounded to reviewed panels (not genome-wide) for signal, explainability and careful framing.
5. Apply each module's rules. Clinical findings, carrier status, pharmacogenomics, traits and ancestry each restate sourced facts through their own lens.
6. Freeze the report. The result is pinned to the exact source versions used, so your report never silently changes after it is issued.

Sources we restate

We build only on openly-licensed sources, and we surface each source's own claim and version. We do not invent our own classifications.

• ClinVar: clinical significance and review status (gold stars).
• gnomAD: population allele frequencies.
• VEP: variant consequence prediction.
• ACMG SF: the reportable secondary-findings gene list.
• CPIC: pharmacogenomic guidance.
• GWAS Catalog: trait associations, evidence-gated.
• PhyloTree: mitochondrial (maternal-line) haplogroups.

Absence of evidence

We never say "you don't have X." We say no matching variant was found in the regions your data covered, and we show that coverage. A gap in coverage is not the same as a clean result, and we never let it read that way.

When you supply a gVCF, we report per-gene callability: the share of each panel region covered at a read depth of at least 10, the common clinical-grade minimum for a confident germline genotype. A region below that depth is reported as not fully callable, so "no variant found" is never mistaken for "region confirmed clear".

How sure is a finding?

We keep two questions separate: how sure is the field that this is real? (ClinVar review status, submitter count, replication) and how much would it matter if real? (effect size or penetrance). A large effect never masks weak evidence. See the glossary for the terms used in your report.

This page describes the intended method. Exact source versions for any given report are pinned in that report itself.