Biotechnology Research

GenePlanet

201-500

Zagreb

Peru

<p>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.</p>
<h2>Tasks</h2>
<ul>
<li>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.</li>
<li>Build and maintain normalization and calibration approaches (panel-of-normals, coverage references, GC correction, z-scoring, batch/drift correction) and understand their validation impact.</li>
<li>Define QC metrics, thresholds and acceptance criteria using data-driven sensitivity/specificity evaluation.</li>
<li>Investigate analytical artifacts, pipeline failures and performance drift; perform root-cause analysis and implement corrective actions.</li>
<li>Support clinical WGS workflows including QC, SNV/indel/CNV/SV detection, annotation and prioritisation.</li>
<li>Ensure reproducible, version-controlled and traceable analyses suitable for clinical and regulatory environments.</li>
<li>Prepare analytical validation reports, technical documentation and method-change justifications for audits.</li>
<li>Transfer new methods into validated production environments and collaborate with molecular biology, clinical, software, QA and regulatory teams.</li>
</ul>
<h2>Requirements</h2>
<p><strong>Required</strong></p>
<ul>
<li>MSc or PhD in bioinformatics, computational biology, statistics, mathematics, computer science, genetics or related field.</li>
<li>Proven experience debugging and stabilising quantitative genomic pipelines (batch effects, bias correction, calibration, QC).</li>
<li>Strong applied statistics: normalization, calibration, robust estimators, z-scores, ROC/performance evaluation and rare-event detection.</li>
<li>Strong Python skills (numpy/pandas/scipy/statsmodels or equivalent); R knowledge is a plus.</li>
<li>Hands-on NGS experience with genomic data formats (FASTQ/BAM/CRAM, VCF, coverage data, HDF5) and large-scale datasets.</li>
<li>Experience with reproducible Linux workflows, git, testing and structured documentation.</li>
<li>Ability to translate complex analyses into clear scientific and regulatory documentation.</li>
<li>Excellent scientific English and ability to work independently in interdisciplinary teams.</li>
</ul>
<p><strong>Preferred</strong></p>
<ul>
<li>Direct cfDNA/NIPT/prenatal genetics experience, including fetal fraction and aneuploidy/CNV detection.</li>
<li>Experience with cfDNA fragmentomics and bias-correction methods.</li>
<li>Experience in regulated IVD/clinical environments and knowledge of IVDR, ISO 13485, IEC 62304 or ISO 14971.</li>
</ul>
<p><strong>Nice to have</strong></p>
<ul>
<li>End-to-end clinical WGS pipeline experience.</li>
<li>Nextflow/Snakemake, Docker/containers, CI/CD.</li>
<li>HPC/cloud computing or parallel processing.</li>
<li>Statistical modelling or ML approaches with proven clinical performance benefits.</li>
<li>Experience with genomic data governance and sensitive clinical data.</li>
</ul>
<h2>Benefits</h2>
<ul>
<li>Work on clinically impactful genomic technologies with direct patient relevance.</li>
<li>Opportunity to shape algorithms, validation strategies and production pipelines.</li>
<li>Collaboration with multidisciplinary experts in genomics, medicine, software and regulatory affairs.</li>
<li>Professional growth in a highly specialised bioinformatics environment.</li>
</ul>
<p>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.</p>

Clinical Bioinformatics Scientist - NIPT & cfDNA (with clinical WGS and IVDR documentation)

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Representante de Ventas Médicas, Lima, Peru

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