Bioinformatics Scientist: tNGS Panels
AITbiotech Pte Ltd ·Singapore · Full-time · Bachelor or MSc level
About the role
At AITbiotech we develop molecular diagnostics and genomics solutions, and we are building a growing menu of targeted NGS panels that run on our benchtop abSEQ sequencer with on-site analysis and reporting: solid-tumour profiling with hereditary cancer, inherited cardiac disease, a large comprehensive cancer panel and infectious disease.
Our R&D team builds the analysis pipelines and the AI behind them. We are looking for a scientist to own the layer on top: run those pipelines across the whole panel menu, curate the clinical knowledge base, interpret and classify variants and draft the reports that turn sequencing data into a clinical result.
This is a cross‑panel role in a small team. You will work with the R&D Director who leads pipeline and AI development, with the laboratory team and Quality, and with a clinician advisor who signs out cases. If you enjoy variant interpretation and curation and want breadth across somatic and germline testing rather than a single assay, this is that role.
Key Responsibilities
Analysis and QC across the panel menu
- Run and monitor the NGS analysis pipelines on the abSEQ platform and on‑site software across the panel menu, and check run‑and‑sample‑level QC, flagging and following up failures.
- Use scripts (Python, R or bash) to handle, QC and summarise data. The pipelines themselves are built and maintained by the R&D team, so this is applying and configuring them, not developing them.
Variant curation and interpretation
- Curate and maintain the clinical knowledge base: variant classifications, gene‑disease and variant‑drug evidence, kept current with guidelines and the literature.
- Tier somatic variants (CAP/AMP/ASCO) for tumour profiling and classify germline variants (ACMG/AMP) for hereditary cancer and inherited cardiac testing.
- Draft structured, therapy‑linked or condition‑linked reports for review and sign‑off by a qualified professional.
Validation support
- Analyse and tabulate data from analytical and clinical validation studies across panels (concordance, limit of detection, precision) and investigate discordances with orthogonal methods.
- Provide the analysis outputs and summaries that feed the validation and design‑control records, which Quality maintains.
Continuous improvement
- Feed interpretation and QC findings back to the R&D team to improve the pipelines, the AI and the knowledge base.
- Maintain analysis records, interpretation versioning and traceability.
What we’re looking for
Essential
- Bachelor’s or Master’s in Bioinformatics, Genetics, Genomics, Molecular biology or a related field.
- 3 to 5 years working experience in related field.
- Experience interpreting NGS variant data: comfortable with coverage, variant allele fraction and variant evidence, with familiarity with somatic tiering (CAP/AMP/ASCO) and/or germline classification (ACMG/AMP).
- Comfortable on the Linux command line and running bioinformatics tools and pipelines, and able to use Python, R or bash to handle and QC data (building pipelines is the R&D team’s job).
- Familiarity with variant databases and resources such as ClinVar, COSMIC, gnomAD, OncoKB and the ACMG criteria.
- Accurate, methodical and well‑documented work and clear written English for clinical reports.
Advantageous, not required
- Clinical or diagnostic variant curation or reporting experience.
- Both somatic and germline interpretation.
- Oncology, hereditary cancer or inherited cardiac genetics.
- Experience with MGI or Illumina data, hybrid‑capture panels, FFPE and cell‑free DNA.
- Exposure to ISO 15189 or ISO 13485 or regulated clinical reporting.
What you get
- Breadth across a whole pipeline. Solid‑tumour profiling, hereditary cancer, inherited cardiac disease, a large comprehensive cancer panel and infectious disease rather than one assay.
- You own interpretation and reporting. Your work turns sequencing into a clinical result while the R&D team builds the pipelines and AI behind you.
- Room to grow. Scope to become the clinical‑genomics and reporting lead as the panel menu expands.
- Small company, real decisions and a short distance between your work and whether a result reaches a patient.