Department: Newborn Screening Translational Research Network (NBSTRN)
Reports to: Associate Project Director
FLSA Status: Exempt
Date: July 2019
The American College of Medical Genetics and Genomics is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics. ACMG was incorporated in 1991 to give national representation to providers of genetic services and their patients with genetic disorders and to speak for the emerging specialty of medical genetics in organizations and agencies concerned with medical service, certification, and regulatory issues. ACMG provides education, resources, and a voice for the medical genetics profession and its mission is to improve health through genetics and genomics.
The Newborn Screening Translational Research Network (NBSTRN) is a contract funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). The mission of NBSTRN is to improve the health outcomes of newborns with genetic or congenital disorders by means of an infrastructure that allows investigators access to robust resources for newborn screening research.
ABOUT THE OPPORTUNITY:
The Bioinformatics Scientist is an integral part of the NBSTRN team supporting the development, enhancement and maintenance of information technology (IT) tools and data resources. NBSTRN is a groundbreaking project that bridges private healthcare systems, public healthcare systems and Public Health programs with the goal of facilitating research to improve the health outcomes of newborns with genetic or congenital disorders. This position will work with the NBSTRN Associate Project Director to design, develop, implement and maintain IT tools and algorithms to support NBSTRN users.
Extract and distill novel insights from complex data sets, ranging from numerical data generated by laboratory methods to DNA variants
Prototype and implement software tools for internal and external use
Troubleshoot issues related to software and database performance
Work closely with researchers and NIH teams, providing bioinformatics expertise during data uploading, sharing and depositing in 3rd party databases
Develop, coordinate and conduct both basic and advanced informatics training for users
Work with a team of UI designers to develop visualizations that allow domain scientists to quickly and accurately interpret complex analysis results.
Define solutions that meet user requirements, working closely with NBSTRN team and related subcontrators to drive those solutions through development, testing, deployment, and user validation in an agile environment
Define solutions that meet user and statement of work requirements
Contribute to security and compliance documentation as needed
Draft and present findings at professional meetings
Fluency in programming languages, for example using scripting languages such as Python, R or Matlab; familiarity with C++ or C is a plus
Excellent understanding of bioinformatics/genomics, sequence analysis or related disciplines.
Experience with common software toolkits for Next Generation Sequencing analysis
Advanced proficiency in Microsoft Word, Excel, Outlook, PowerPoint
Working knowledge of nucleic acid chemistry
Experience with modern medical genetics data sets (e.g. 1000 genomes, TCGA, GIAB)
Ability to work independently, accurately, and apply research best practices
Exceptional communication (oral and written) proficiency
BA or BS in Biology, Statistics, Medical Sciences, Genetics or Related Discipline
Research experience in an academic or industry setting
Ability to maintain productive and professional working relationships with team members, researchers, and external partners
Available for occasional travel
BENEFITS AND SALARY The salary for this exempt, full-time position shall be commensurate with the candidate’s skill and experience. ACMG offers an excellent benefits package.
HOW TO APPLY
Please send your resume and cover letter, with salary requirements and three professional references to firstname.lastname@example.org with the subject line, Research Assistant. Only competitive candidates will be contacted and invited to participate in the selection process. No phone calls please. Applications are accepted until the position is filled.
This is a largely sedentary position that requires the ability to speak, hear, see and lift small objects up to 20 lbs.
The above statements are intended to describe the general nature and level of work being performed by the individual(s) assigned to this position. They are not intended to be an exhaustive list of all duties, responsibilities, and skills required. Management reserves the right to modify, add, or remove duties and to assign other duties as necessary. In addition, reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions of this position.