Clinical Data Analyst NGS Genomics

* Performs technical quality review of data from high complexity genetic testing methodologies such as Next-Generation Sequencing (NGS), MLPA, microarrays, fragment analysis and Sanger sequencing.* Using existing databases and newly-developed analysis tools, performs technical and clinical interpretation of genetic sequence alterations identified through Next-Generation Sequencing (NGS).* Performs initial analysis/quality review of test data and assists the Genetic Counselors/Medical Directors in drafting preliminary patient reports for molecular genetic tests.* In collaboration with laboratory technologists, identifies opportunities to improve data accuracy/integrity by evaluating, refining and improving analysis/variant interpretation workflows, and assists in the continued development of standard operating procedures.* Recognizes the clinical significance of each test performed, maintains the confidential and sensitive nature of patient information and results, and adheres to HIPAA regulations for transactions, security and confidentiality, and reports results within established time frames.* Maintains a professional level of knowledge of molecular biology and genetics to properly analyze molecular genetic test results; in particular, in the context of abnormal or atypical findings, by conducting comprehensive literature review. Keeps current with new and evolving clinical standards and workflows, particularly for next generation sequencing and variant interpretation guidelines from ACMG.* Participates in, and successfully completes all proficiency testing. Ensures compliance with CLIA/CAP requirements and adheres to the laboratory’s documented Quality Management Plan.* Contributes to new test method and technology development and expansion of services provided by the laboratory via direct clinical lab work and/or review of test data generated during method development and validation.* Participates in education and mentorship of other lab staff through direct interaction and presentations. Serves as a technical resource on next-generation sequencing analysis pipelines and relates expertise to staff.* Involved in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences.* Other job functions as assigned.* Ph.D in a field directly related to human genetics and genomics required, with a strong desire to work in a clinical environment.* Experience analyzing Next-Generation Sequencing data (whole genome/exome, RNAseq and custom panels) with commonly used bioinformatics tools and databases preferred (e.g. Mutation Surveyor, ClinVar, OMIM, HGMD).* Experience in Next-Generation Sequencing or molecular biology bench work highly preferred.* Experience working in a team-based environment with strong work ethic, time management skills, and proven productivity.* Excellent verbal and written communicator with strong technical documentation capabilities.* Demonstrated analytical and problem-solving skills with good attention to details.At Lurie Children’s, we are committed to competitive and fair compensation aligned with market rates and internal equity, reflecting individual contributions, experience, and expertise. The pay range for this job indicates minimum and maximum targets for the position. Ranges are regularly reviewed to stay aligned with market conditions. In addition to base salary, Lurie Children’s offer a comprehensive rewards package that may include differentials for some hourly employees, leadership incentives for select roles, health and retirement benefits, and wellbeing programs. For more details on other compensation, consult your recruiter or click the following to learn more about our benefits.* Supplemental Life, AD&D and Disability* Critical Illness, Accident and Hospital Indemnity coverage* Tuition assistance* Student loan servicing and support* Adoption benefits* Backup Childcare and Eldercare* Employee Assistance Program, and other specialized behavioral health services and resources for employees and family members* Discount on services at Lurie Children’s facilities* Discount purchasing programAnn & Robert H. Lurie Children’s Hospital of Chicago provides superior pediatric care in a setting that offers the latest benefits and innovations in medical technology, research and family-friendly design.
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