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We are developing clinical-grade genomic solutions based on cfDNA and NGS data. We are looking for a Clinical Bioinformatics Scientist to build, validate and maintain robust algorithms for NIPT, with additional involvement in germline/clinical WGS. The role combines quantitative method development, analytical validation and regulatory documentation to ensure reliable, traceable and clinically defensible results. Tasks • Develop and optimise cfDNA/NIPT algorithms for fetal signal detection, including aneuploidy (T13/18/21), sex-chromosome abnormalities, sub-chromosomal CNVs/microdeletions and fetal fraction estimation. • Build and maintain normalization and calibration approaches (panel-of-normals, coverage references, GC correction, z-scoring, batch/drift correction) and understand their validation impact. • Define QC metrics, thresholds and acceptance criteria using data-driven sensitivity/specificity evaluation. • Investigate analytical artifacts, 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. • Ensure reproducible, version-controlled and traceable analyses suitable for clinical and regulatory environments. • Prepare analytical validation reports, technical documentation and method-change justifications for audits. • Transfer new methods into validated production environments and collaborate with molecular biology, clinical, software, QA and regulatory teams. Requirements Required • MSc or PhD in bioinformatics, computational biology, statistics, mathematics, computer science, genetics or related field. • Proven experience debugging and stabilising quantitative genomic pipelines (batch effects, bias correction, calibration, QC). • Strong applied statistics: normalization, calibration, robust estimators, z-scores, ROC/performance evaluation and rare-event detection. • Strong Python skills (numpy/pandas/scipy/statsmodels or equivalent); R knowledge is a plus. • Hands-on NGS experience with genomic data formats (FASTQ/BAM/CRAM, VCF, coverage data, HDF5) and large-scale datasets. • Experience with reproducible Linux workflows, git, testing and structured documentation. • Ability to translate complex analyses into clear scientific and regulatory documentation. • Excellent scientific English and ability to work independently in interdisciplinary teams. Preferred • Direct cfDNA/NIPT/prenatal genetics experience, including fetal fraction and aneuploidy/CNV detection. • Experience with cfDNA fragmentomics and bias-correction methods. • Experience in regulated IVD/clinical environments and knowledge of IVDR, ISO 13485, IEC 62304 or ISO 14971. Nice to have • End-to-end clinical WGS pipeline experience. • Nextflow/Snakemake, Docker/containers, CI/CD. • HPC/cloud computing or parallel processing. • Statistical modelling or ML approaches with proven clinical performance benefits. • Experience with genomic data governance and sensitive clinical data. Benefits • Work on clinically impactful genomic technologies with direct patient relevance. • Opportunity 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. If you are passionate about transforming complex sequencing data into reliable clinical insights and want to contribute to next-generation prenatal and genomic diagnostics, we would like to hear from you.