Bioinformatics Scientist (52510)

Position Objective: The Bioinformatics Scientist will independently provide support servicesto satisfy the overall operational objectives of the National Human Genome Research Institute. The primary objective is to provide services and deliverables through performance of bioinformatic analysis development of collaborations that support the NIH mission and analysis of whole genome DNA sequence using state-of-the- art methods and distribution of the products to the scientific community.

Duties and Responsibilities:

• Perform tasks required for construction of whole genome analysis pipelines including validation and competency testing and distribution of pipelines to the research community 2
• Develops new analysis programs writes code as necessary upgrades needed components and performs trouble-shooting as it pertains to lab projects
• Handles implementation problems and works with NHGRI staff and collaborators to develop software design/implementation problems and define specifications for solutions; implement those solutions
• Provides independent leadership in the analysis of large amount of DNA sequence data in support to the Federal Government within a structured research laboratory. 1
• Performs state-of-the-art computational analysis on research data including DNA assembly T2T analysis using standard HiFi and ultralong-read sequencing and carry out mutation scans 3
• Perform complex scientific primary DNA sequence data analysis using state-of-the-art approaches
• Work with staff on the development and maintenance of bioinformatics tools scripts and pipe-lines for data
• Collaborate with NHGRI staff to review current and historical procedures for the acquisition QC and management of data.
• Attend all NIH required classes in a timely fashion including those related to safety in a laboratory environment.
• Develop and maintains state-of-the-art Data Quality Assessment and Data QC reports on non-human sequence data. 4
• Works with NHGRI staff and outside collaborators to optimize experimental design 5
• Attend group meetings; present findings; and author publications resulting from projects
• Participates in monthly meetings with Lab Chief.
• Record observations maintaining updated electronic laboratory notebook and report results at weekly laboratory meetings.
• Participates in weekly journal club
• When appropriate perform data processing and data analysis with existing statistical methods
• Prepare scientific reports and progress reports; assemble data to prepare tables graphs and slides; conduct scientific and program related information searches and report results; draft scientific manuscripts.
• Provide statistical support for lab members including but not limited to analysis of long read data sequence assembly copy number variant analysis ancient DNA analysis and mutation scanning
• Provides research / service goals in the context of the laboratorys overall mission.
• Provide research / service goals in the context of the laboratory and NHGRIs overall mission
• Maintain and demonstrate the highest standard of scientific ethics
• Evaluate new types of experimental approaches to protocols based on knowledge of scientific literature available facilities and research needs as needed to meet NHGRI goals.
• Independently coordinate the training of lab personnel in the use of scientific software applications statistical software applications and programmatic software applications.
• Initiates interdisciplinary collaborations with other research centers.
• Initiate interdisciplinary collaborations with other research centers. Participate in Microsoft Team calls to carryout project planning.
• Work with an interdisciplinary team to apply computational data analysis approaches to make biological discoveries.
• Follows NIH and government approved Data Sharing Plans
• Deliver at least one presentation per year to audiences outside the Government
• Takes responsibility for the publication and dissemination of research data presentation of data at lab meetings and NIH approved scientific conferences
• Produce a near complete sequence telomere to telomere assembly of a non-human genome
• Produce a complete sequence-based map of the Y chromosome in a non-human genome
• Optimize existing computational programs and strategies and distribute those to the community.
• Produce figures and tables for publications summarizing the sequencing of T2T and base map of the Y chromosome of a non-human genome
• Draft manuscripts respond to reviewer comments and submit final paper. -
• Assist in identifying functional variants for morphological and disease traits of interest in non-mouse mammalian mammals.
• Meet with lab members to present updates.

Basic Qualifications:

• PhD in Genetics Genomics Molecular Biology or similar.
• Skilled in R GATK Python Linux PERL Manta HiCanu GraphAligner and UCSC Genome Browser
• Experience copying number variant analysis T2T assemblies Coding Mutational Analysis T2T Analysis lead projects and Mentoring
• Experience with genome-wide association studies work with large data sets pipeline development

Preferred Qualifications:

• Experience with ancient DNA sequence preferred
• Ability to communicate effectively orally and in writing with non-technical and technical staff
• Detail-oriented and possess strong organizational skills with the ability to prioritize multiple tasks and projects

*This job description is not designed to cover or contain a comprehensive listing of activities duties or responsibilities that are required by this position.

To perform this job successfully an individual must be able to perform each essential duty satisfactorily. The requirements listed above are representative of the knowledge skill and/or ability required. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.

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Qualified applicants will receive consideration for employment without regard to race color religion sex national origin disability protected veteran status or other characteristics protected by law.

This position is contingent upon contract award.