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Bioinformatics Analyst

1 month ago


Lake Success, United States Northwell Health Full time
  • Job Description

Collaborates with the leadership to advance data science strategy and programs; works collaboratively with both Information Technology members and the clinical community to evaluate and implement data science projects, systems and initiatives at both the department and the enterprise level. Ensures that these projects and their outputs enhance clinical quality, patient safety, and institutional efficiency, focusing on all aspects of data science, including data gathering and wrangling, exploratory data analysis, data modeling and machine learning, and model implementation and evaluation. Provides expertise on mathematical concepts for the broader applied analytics team.

Job Responsibility

  • Performs technical quality review of data from high complexity genetic testing methodologies mainly Next-Generation Sequencing (NGS).
  • 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.
  • Supports activities of the molecular diagnostic lab pertaining to new test and technology development and continued expansion of next-generation sequencing based tests.
  • 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.
  • Runs existing bioinformatics pipeline on google cloud and maintain backup of genomic data
  • Works collaboratively to design, implement and maintain data science models and applications.
  • Works on programs to apply data science methodologies, including predictive modeling and machine learning, data analytics and visualization, and usability and design, to departmental, service line, and enterprise applications and functions.
  • Synthesizes complex data-related problems into actionable business and/or clinical strategy, and communicate findings to appropriate end-users and stakeholders.
  • Assists with the development of specifications to support the design of new or modified data science projects, with a focus on data-driven optimization, enhancement, and development.
  • Assists in the evaluation of projects, systems, and initiatives at the department, service line, and enterprise level; ensures projects and their outputs enhance clinical quality, patient safety, and institutional efficiency, focusing on all aspects of data science, including data gathering and wrangling, exploratory data analysis, data modeling and machine learning, and model implementation and evaluation; ensures high quality execution of all proposed projects.
  • Knowledgeable in present and planned data science projects and maintains voice of the customer in all project initiatives.
  • Serves as the link between the clinical staff (customer) requirements and IS capabilities.
  • Assists in ensuring that systems are implemented to support organization initiatives and goals to improve the quality of patient care, to maximize patient safety, and to provide operational efficiencies.
  • Serves as a resource to the leadership; demonstrates familiarity with current hospital information systems.
  • Operates under general guidance and work assignments are varied and require interpretation and independent decisions on course of action.
  • Performs related duties as required. All responsibilities noted here are considered essential functions of the job under the Americans with Disabilities Act. Duties not mentioned here, but considered related are not essential functions.

Job Qualification

  • Bachelor's Degree in Computer Science, Informatics, Statistics, Engineering, Data Science, or related field, required. Master's Degree, preferred.
  • Minimum of two (2) years of post-graduate training or experience involving quantitative data analysis, required and working with clinical data, data science, and machine learning, preferred.
  • Working familiarity with basic medical and health information technology concepts, including standardized terminologies and ontologies and electronic health records, as well as Data Warehousing and Business Intelligence tools, required.
  • Expertise in working with SQL relational databases and statistical or general programming languages (e.g., Python, R), required.
  • Deep understanding of statistical and predictive modeling concepts, machine-learning approaches, clustering and classification techniques, and recommendation and optimization algorithms.

HIGHLY PREFERRED

  • MS/Ph.D. in computer science or bioinformatics, with a strong desire to work in a clinical environment.
  • Experience analyzing Next-Generation Sequencing data (whole genome/exome, RNA seq 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.


*Additional Salary Detail
The salary range and/or hourly rate listed is a good faith determination of potential base compensation that may be offered to a successful applicant for this position at the time of this job advertisement and may be modified in the future. When determining a team member's base salary and/or rate, several factors may be considered as applicable (e.g., location, specialty, service line, years of relevant experience, education, credentials, negotiated contracts, budget and internal equity).