AI and quantum
for the human genome.
A laboratory for variant interpretation. The agent gathers the public evidence, writes and runs the analysis in your workspace, escalates a subproblem to quantum only where that is honest — and seals every run into a record someone else can re-run.
Two genomes in one.
We read one of them well.
The blueprint.
A small fraction of the sequence spells out proteins directly. We read it comparatively well: change a codon and you can often reason from the amino acid to the protein to the phenotype.
The control panel.
The rest decides when, where and how much of each protein gets made — millions of switches and dials, most of them cell-type specific. It is where the majority of trait-associated variants land, and where interpretation is still hard.
A single substitution can change a protein, weaken a splice site, create or destroy a transcription-factor motif, or do nothing at all — and which of those it does usually depends on the cell type you ask about.
Nine billion
single-letter questions.
Sources: GRCh38 assembly statistics; GENCODE/Ensembl gene counts; Maurano et al., Science 2012 (10.1126/science.1222794). Rounded down to the figure each source supports.
From a coordinate
to a record.
Bring the locus
A coordinate, an rsID, or a shortlist exported from your own pipeline as CSV or TSV. Nothing has to be uploaded to start: on the desktop the agent can profile a local file in place and return only the profile.
Work that produces evidence, not adjectives.
Everything in this section runs today. None of it depends on the Substitution Atlas, which is still in development.
Variant evidence dossiers
Point at a locus and get the public record assembled and cited: classification, population frequency, the published mechanism, and an explicit line between what is established and what is not.
Cohort prioritisation
Rank a shortlist exported from your own pipeline by criteria you can read and change — no black box, and the ranking code stays in your workspace.
Hybrid escalation
Combinatorial and electronic-structure subproblems get a quantum path when that is honest: you bring the encoding, the free simulator runs first, hardware only on approval, classical baseline always reported.
Reproducible figures
Plots and tables come back with the manifest that produced them, ready to attach to a paper or a review.
Scripted, if you prefer
The same lab from Python or the CLI, and from your own agent over MCP where that access is open — same backends, same balance, same sealed records.
Six loci, six mechanisms.
Open any one in the lab.
Each card is a real, publicly documented variant with its GRCh38 coordinate verified against Ensembl. Clicking one opens the lab with a question the agent can answer today from public sources — and it will cite them.
Sickle cell disease
The founding molecular disease. A single substitution changes the sixth amino acid of β-globin from glutamate to valine, and the mutant haemoglobin polymerises when deoxygenated.
- Gene
- HBB
- Biosample
- Erythroid
β-thalassaemia
A change five bases into intron 1 (HBB c.92+5G>A) weakens the splice donor, so a fraction of transcripts are mis-spliced and β-globin output falls. The phenotype tracks how much correct splicing survives.
- Gene
- HBB
- Biosample
- Erythroid
LDL cholesterol
A non-coding change that creates a C/EBP transcription-factor binding site in a liver enhancer, altering SORT1 expression in hepatocytes. One of the first regulatory variants mapped from a genome-wide association signal to a mechanism.
- Gene
- CELSR2 · PSRC1 · SORT1
- Biosample
- Liver
Obesity risk
Inside an FTO intron, this change disrupts a conserved ARID5B repressor motif. The published mechanism runs through de-repression of IRX3 and IRX5 in adipocyte precursors, not through FTO itself.
- Gene
- FTO → IRX3 · IRX5
- Biosample
- Adipocyte
TERT promoter (C228T)
A promoter change that creates a new ETS-family binding motif upstream of TERT, recruiting GABP and reactivating telomerase. Among the most recurrent non-coding somatic changes in human cancer.
- Gene
- TERT
- Biosample
- Melanoma · glioma
Nephrogenic diabetes insipidus
An X-linked coding change in the vasopressin V2 receptor. Published work groups AVPR2 variants by whether the receptor misfolds and is retained in the cell, or reaches the surface and fails to signal — two mechanisms with different therapeutic logic.
- Gene
- AVPR2
- Biosample
- Kidney
These descriptions state the published mechanism for each variant. They are not predictions produced by SynapseX, and nothing here is medical advice or a diagnostic result.
Where a quantum step
earns its place.
No one has demonstrated a quantum advantage for genomics, and we will not be the first to claim one in marketing copy. What exists is a set of subproblems where a quantum method is a legitimate thing to try — and the discipline to run the classical baseline next to it, on the free simulator, before anyone spends a credit.
Your data.
Your machine.
Genomic data is not a spreadsheet you can re-download. The defaults here assume that: the cheapest way to analyse a file is often without moving it, and anything that does move is versioned, hashed and checked on arrival.
Profile without uploading
On the desktop, the schema, column ranges, missing-value counts and a SHA-256 of a tabular file are computed on your machine. Only the profile travels.
Append-only versions
Re-uploading a dataset creates a new version instead of overwriting one. An old run still points at the bytes it actually used.
Verified at the far end
The runner re-checks the bytes against the sealed hash before executing. A mismatch fails the run rather than quietly analysing the wrong file.
Nothing spends silently
Paid hardware shows an estimate and waits for your approval, reserves against it, then settles for actual usage.
Same lab.
Four front doors.
The lab, in chat
No install, no code required.
A persistent workspace with Python and notebooks behind a conversation. Ask for the evidence on a locus and watch the analysis get written, run and explained.
- Free simulators at 0 credits
- Charts rendered in the thread
- Every run recorded
Desktop & CLI
For data that should not move.
The agent runs on your machine and can profile a local tabular file in place — schema, column ranges, missing-value counts and a SHA-256 — returning the profile without the file.
- Local-first file access
- Scoped, confirm-class permissions
- macOS, Linux, Windows
API & Python SDKs
For pipelines that already exist.
Scoped keys and a prepaid wallet over the same backends: list what is available, get an estimate, submit the job, pull the sealed record back.
- Scoped, rotatable API keys
- Reserve then settle, per job
- Queryable usage ledger
MCP for your own agent
Bring your own intelligence.
The lab is built to be driven over the Model Context Protocol, so an agent you already run can list backends, estimate, submit and fetch evidence without our models in the loop. Credentials are opening with early partners.
- Backend catalog and estimates
- Job submission and results
- Sealed evidence retrieval
What people ask
before they trust it with a genome.
Open a locus.
Keep the receipt.
Start free: the lab, the public evidence and the simulators cost nothing. The Substitution Atlas and our own sequence model are in development — ask for early access and we will tell you honestly where they are.
Research use only. Not a diagnostic device and not medical advice.
SynapseX Genome is a research instrument. It does not diagnose, treat or make clinical recommendations, and no output should be relied on for medical decisions. Variant mechanisms described on this page are drawn from published literature and public records; genome coordinates are GRCh38.Runs are hash-sealed, and paid runs carry a Merkle-sealed receipt from the executing service: that proves integrity and reproducibility, not origin.