I built a triage tool so my friend stops ordering dead probes

Описание и применение

ORBITGENE – инструмент для приоритизации мутаций в биологических лабораториях, использующий открытые базы данных и локальную модель NLI, чтобы избежать ненужных заказов проб.

Задача

A molecular biology lab was ordering probes for every mutation flagged by databases, spending money on assays that often yielded no useful information. The lab lacked a way to triage mutations before ordering probes.

Результат

ORBITGENE reduced unnecessary probe orders by triaging mutations with evidence from multiple public sources, preventing costly assays for non‑viable variants and ensuring accurate coding sequence usage.

Рабочий процесс

• 1. Input a protein substitution (e.g., BRCA1 I26F).
• 2. ORBITGENE retrieves the protein from UniProt, the coding sequence from RefSeq, ClinVar classification for the exact substitution, and NOAA SWPC radiation data.
• 3. It verifies the coding sequence matches the UniProt protein residue by translating the annotated CDS.
• 4. It checks for reference residue consistency and rejects mismatches.
• 5. It calculates six weighted factors (physicochemical displacement, assay signal budget, structural context, probe thermodynamics, radiation integrity, codon consequence).
• 6. It applies five hard gates (FLIGHT‑GO, GROUND‑ONLY, REDESIGN‑PROBE, HOLD‑FOR‑EVIDENCE).
• 7. It outputs a score, verdict, and a ledger of factor contributions.
• 8. An open‑weight NLI model runs locally in the browser to explain the verdict in natural language.
• 9. The user reviews the evidence and decides whether to order, redesign, or hold the probe.

Доказательства

She was spending money on oligos. Not recklessly, and not carelessly — she just had no way to answer one question before ordering: if this mutation is real, is it even worth an assay?

Источник

Four public, keyless sources, each labelled live or fallback on every single response: UniProt, RefSeq, ClinVar, NOAA SWPC.

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The engine now refuses a reference residue that disagrees with the coding sequence.

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Six weighted factors, five hard gates, one verdict, and no black box anywhere.

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It runs on your machine. WebGPU, ~4.5 s inference, verified working on the live site. No API key, no cost per run, no quota.

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