Data Scientist

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. The 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. The ACMG provides education, resources, and a voice for the medical genetics profession and its' mission is to improve health through genetics.

ORGANIZATIONAL OVERVIEW:

ACMG is a nonprofit organization composed of health care professionals committed to the practice of genetics and genomics. 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.

ACMG operates the Newborn Screening Translational Research Network (NBSTRN). The NBSTRN facilitates ground-breaking research in newborn screening as an important part of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Hunter Kelly Newborn Screening Research Program. The Data Scientist is an integral part of the NBSTRN team supporting the development, enhancement, and maintenance of data resources and analytic tools. This position will work with the NBSTRN team to design, develop, implement, and maintain NBSTRN databases, data dictionaries and ontologies, data models, metadata, and data analytic tools and algorithms to support NBSTRN researchers. Experience working with professionals in genetics, genomics, research, industry, public health, and ethics is essential while experience with grant writing and developing funding opportunities is desired.

Essential Functions

• Test and implement approaches for data representation, organization, and visualization using accepted data standards and approaches to optimize access, interoperability, and user experience and conform to the NBSTRN statement of work.
• Work closely with researchers, providing bioinformatics expertise during data uploading, sharing, and depositing in 3rd party databases to ensure all data deposited in NBSTRN is consistent with accepted standards and approaches.
• Extract and distill novel insights from complex data sets, ranging from numerical data generated by laboratory methods to genomic variants
• Prototype and implement software tools for internal and external use
• Troubleshoot issues related to software and database performance
• Develop, coordinate and conduct both basic and advanced informatics and data analytic training for users
• Contribute to security and compliance documentation as needed
• Draft and present findings at professional meetings
• Develop methods to collect, analyze and share next-generation sequencing data.
• Incorporate genomic and phenotypic data into existing and planned NBSTRN research projects.
• Supports users in the execution of data uploading, analysis, sharing with 3rd party databases, and online dissemination.
• Establishes and leads interactions with the National Library of Medicine and related groups to develop online repositories.
• Oversees the Data Governance Group with the goal of implementing best practices related to data sharing and dissemination.

Competencies

• Must have experience with representation, dissemination, and analysis of data collected with a variety of methods including REDCap.
• Experience with data ontologies (specifically the Human Phenotype Ontology) and standard clinical data models (OHDSI/OMOP, although other models such as PCORnet are acceptable) is strongly preferred.
• Experience in analyzing large sequencing datasets to determine clinical relevance and/or actionability.
• Fluency in programming languages, including scripting languages such as Python, R or Matlab; familiarity with C++ or C is preferred
• Prior experience with bioinformatic analysis of genomic data, sequence analysis, or related disciplines applied to medical genetics data sets in common use (e.g. 1000 genomes, gnomAD, GIAB, etc.)
• Experience with common software toolkits for Next Generation Sequencing analysis
• Ability to work independently, accurately, and apply research best practices
• High character, self-motivated with exceptional communication (oral and written) proficiency, and adaptability to changing requirements.
• Exceptional written and verbal communication.
• Team player who is highly organized and able to manager multiple concurrent projects with minimal oversight.

PhD in Genomics, Computational Biology, Bioinformatics, Medical Informatics or related discipline or MS Certified Genetic Counselor (CGC) with demonstrable training and experience in genomic science or MS/BA/BS in Biology, Statistics, Medical Sciences, Genetics or Related Discipline with at least 4 years relevant work experience

Physical Requirements
This is a largely sedentary position that requires the ability to speak, hear, see and lift small objects up to 20 lbs.

Benefits and Salary
This is a full-time, exempt position. The salary for this shall be commensurate with the candidate’s skill and experience. ACMG offers an excellent benefits package.

How To Apply
Please click I'm Interested to upload your curriculum vitae and cover letter and three professional references. 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.