Clinical Bioinformatics Scientist - NIPT & cfDNA (with clinical WGS and IVDR documentation)
Tasks
- Build normalization and calibration approaches
- Define QC metrics thresholds and acceptance criteria
- Develop and optimize cfDNA NIPT algorithms
- Ensure reproducible version controlled traceable analyses
- Investigate pipeline artifacts failures and performance drift
- Prepare analytical validation reports and technical documentation
- Support clinical WGS workflows
- Transfer methods into validated production environments
Perks/Benefits
- N/A
Skills/Tech-stack
Anomaly Detection | BAM | Batch Effect Correction | Batch correction | Bias correction | CNV | CRAM | Calibration | Cause analysis | FASTQ | GC bias correction | GC correction | Genome annotation | Git | HDF5 | Indel | Linux | NGS | Normalization | NumPy | Pandas | Python | QC | R | ROC analysis | Root Cause Analysis | Root cause | SNV | SV detection | SciPy | Sensitivity specificity evaluation | StatsModels | VCF | Z Score
Education
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