Bioinformatics Scientist (52510)

GAP SOLUTIONS INC•Bethesda, MD

2d•$198,000 - $208,000•Onsite

About The Position

The Bioinformatics Scientist will independently provide support services to 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.

Requirements

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

Nice To Haves

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

Responsibilities

Perform tasks required for construction of whole genome analysis pipelines including validation and competency testing and distribution of pipelines to the research community
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.
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
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.
Works with NHGRI staff and outside collaborators to optimize experimental design
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 laboratory's overall mission.
Provide research / service goals in the context of the laboratory and NHGRI’s 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.
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.