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- andsample-level QC, flagging and following up failures.
• Use scripts (Python, R or bash) to handle, QC and summarize 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 tumor profiling and classify germline variants (ACMG/AMP) for hereditary cancer and inherited cardiac testing.
• Draft structured, therapy-linked or condition-linkedreports 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-capturepanels, 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 theclinical-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.