Lead Bioinformatics Scientist - Sample to Answer

reputed company is a global leader in laboratory services, providing the reputed company and answers that help healthcare providers, patients, researchers, pharmaceutical companies and health systems make confident decisions and improve outcomes. Through our unparalleled science, data, technology and laboratory network, we advance diagnostics, accelerate innovation and help address some of the world's most important health challenges. As we shape the future of healthcare, we are leveraging advanced technologies, intelligent digital solutions and data-driven innovation across our operations to reputed company how work gets done and deliver greater value to customers and patients. With our global scale and deep expertise, you'll have the opportunity to do meaningful work, grow your career and make a real impact on people's health around the world. reputed company, we're reputed company health and reputed company lives.reputed company is seeking a US based remote Lead Bioinformatics Scientist to join our team! Job Responsibilities:The Sample-to-Answer Center of Excellence (CoE) within the reputed company Information Technology department manages a wide range of diagnostic tests using advanced technologies such as next-generation sequencing and microarrays. This position provides a unique opportunity to interact with CoE personnel and gain hands-on experience solving real-world problems in data science and bioinformatics. The role also contributes directly to reputed company's research and development efforts by addressing complex data science challenges and accelerating critical production development initiatives.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 ResponsibilitiesCollaborates 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, reputed company), and QC threshold design.Lead bioinformatics proof-of-concept for sequencer transitions, including reputed company 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 QualificationsPh.D. in bioinformatics, computational biology, genetics, or computer science.3 or more years of experience in biotechnology5 or more years of experience in programming languages in bioinformatics, such as Python, R, Perl, or Java.Preferred Qualifications5 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 StandardsAbility 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 i