Lead Bioinformatics Scientist

Job Responsibilities: - Produce innovative solutions driven by exploratory data analysis from complex and high-dimensional datasets. - Apply knowledge of statistics, data modeling, data sciences and artificial intelligence to recognize patterns, identify opportunities and make valuable discoveries. - Use a flexible, analytical approach to design, develop, and evaluate predictive models for single-gene non-invasive Fetal Screening (NIFS). - Generate and test hypotheses and be involved from ideation through delivery. Key Responsibilities: - Collaborates with R&D scientists on the development of new assays, measurement technologies, and tests for evaluating clinical conditions. - Perform sophisticated analysis of genomic, transcriptomic, or proteomic datasets using state-of-the-art bioinformatics tools and NGS pipelines. - Performs statistical and bioinformatics analyses of experimental data produced by clinical testing instruments such as DNA sequencers and other molecular instruments. - Conducts data mining over internally produced and publicly available data sets. - Provides analysis information to management to aid in decision making on the development of new laboratory developed tests. - Develop statistical classifiers and decision trees integrating spanning read support, flanking-read ratios, allele dropout indicators, and confidence intervals. - Apply a wide range of bioinformatics algorithms and develop novel computational approaches. - Investigate assay limitations at the molecular level and define boundaries of clinical reporting. - Develop and optimize complex analysis pipelines based on deep knowledge of bioinformatics algorithms. - Architect production-grade Nextflow pipelines for whole-genome sequencing, including caller selection, annotation strategy (AnnotSV, Nirvana), and QC threshold design. - Lead bioinformatics proof-of-concept for sequencer transitions, including concordance analysis, metric comparison, GIAB benchmarking, and cost-benefit recommendations. - Drive improvements in accuracy, cost of goods sold (COGS), and turnaround time across the pipeline portfolio. - Establish quality control metrics and procedures to ensure data integrity across production pipelines. - Guide result interpretation and reporting standards in collaboration with clinical and commercial stakeholders. - Set QC thresholds for new sample metrics and make production-impacting recommendations. Minimum Qualifications: - Ph.D. in bioinformatics, computational biology, genetics, or computer science. - 3 or more years of experience in biotechnology. - 5 or more years of experience in programming languages in bioinformatics, such as Python, R, Perl, or Java. Preferred Qualifications: - 5 or more years of experience with high-throughput sequencing data and bioinformatics tools like BLAST, GATK, or Bowtie. - 5 or more years of experience with Linux/Unix environments and high-performance computing (HPC) or cloud platforms. Additional Job Standards: - Ability to effectively provide guidance to junior team members, sharing your expertise and contributing to a collaborative learning environment. - Ability to demonstrate success in technical proficiency, scientific creativity, collaboration with others and independent thought. - Ability to provide evidence of relevant research expertise in the form of presentations, software, technical publications, and knowledge of applications. - Ability to demonstrate proficiency in data analysis and statistical learning. - Ability to exercise independent judgment in developing methods, techniques and evaluation criteria for obtaining results.