Clinical Bioinformatics Scientist – NIPT & cfDNA

About the role

We are building clinical‑grade genomic solutions based on cfDNA and NGS data. The Clinical Bioinformatics Scientist will develop, validate and maintain algorithms for non‑invasive prenatal testing (NIPT) and support germline/clinical whole‑genome sequencing (WGS) workflows, ensuring results are reliable, traceable and meet regulatory standards.

Key responsibilities

• Develop and optimise cfDNA/NIPT algorithms for fetal aneuploidy, sex‑chromosome abnormalities, sub‑chromosomal CNVs/microdeletions and fetal‑fraction estimation.
• Design and maintain normalisation, calibration and batch‑drift correction pipelines (panel‑of‑normals, GC correction, z‑scoring, etc.).
• Define QC metrics, thresholds and acceptance criteria through data‑driven sensitivity/specificity analysis.
• Investigate analytical artefacts, pipeline failures and performance drift; perform root‑cause analysis and implement corrective actions.
• Support clinical WGS workflows including QC, SNV/indel/CNV/SV detection, annotation and prioritisation.
• Prepare analytical validation reports, technical documentation and method‑change justifications for audits.

Required profile

• MSc or PhD in bioinformatics, computational biology, statistics, mathematics, computer science, genetics or a related field.
• Proven experience debugging and stabilising quantitative genomic pipelines (batch effects, bias correction, calibration, QC).
• Strong applied statistics background (normalisation, robust estimators, ROC analysis, rare‑event detection).
• Excellent scientific English and ability to work independently in interdisciplinary teams.
• Hands‑on experience with NGS data formats (FASTQ, BAM/CRAM, VCF, coverage files, HDF5) and large‑scale datasets.
• Experience with reproducible Linux workflows, version control (git) and structured documentation.

Required skills

• Python (numpy, pandas, scipy, statsmodels)
• R (basic proficiency)
• Linux command‑line and workflow automation
• Git version control
• NGS data handling (FASTQ, BAM/CRAM, VCF, HDF5)
• Statistical modelling and performance evaluation

What we offer

• Opportunity to work on clinically impactful genomic technologies with direct patient relevance.
• Ability to shape algorithms, validation strategies and production pipelines.
• Collaboration with multidisciplinary experts in genomics, medicine, software and regulatory affairs.
• Professional growth in a highly specialised bioinformatics environment.