BACKGROUND

• Competitive salary with comprehensive benefit package
• Opportunity to work at NIH, the world's foremost medical research center

RESPONSIBILITIES

• Develop and maintain whole-genome and exome variant calling methodologies in support of multiple laboratories pursuing gene discovery, gene therapy, and related clinical research projects within NHGRI/DIR.
• Serve as the lead scientific programmer for The Genome Ascertainment Consortium, a flagship effort aimed at improving our understanding of the phenotypic consequences of genetic variation and predicting genotypes from phenotypes. This effort involves numerous intramural research groups at NHGRI and other NIH ICs, as well as high-profile external clinical research partners.
• Optimize variant calling pipelines to take advantage of the NIH Biowulf high-performance supercomputing environment, parallelizing per-sample processing steps and designing methodologies to increase processing speeds and reduce network overhead. This includes working directly with NIH high-performance computing team leadership at the NIH Center for Information Technology (CIT) to enable and ensure that any and all required infrastructure needs are in place for the successful execution of projects.
• Develop, implement, and maintain new web-based genome browsers for visualizing aggregate genome and exome data, providing new functionality to NHGRI/DIR investigators and allowing for faster identification of mutations that may be involved in disease causation.
• Work directly with the NIH Intramural Sequencing Center (NISC) to capitalize on the analysis and visualization of data derived from emerging sequencing methodologies. This includes new efforts pertaining to the detection and evaluation of copy number variants, genome structural variants, and chromosomal rearrangements that play a role in human disease but are difficult to analyze.
• Actively interact with scientists in NHGRI/DIR laboratories to assess their needs with respect to massive (terabyte-sized) data sets, then develop concrete and tractable project plans for completing these projects.
• Provide broad-based programming and analytic support for a wide variety of bioinformatics and genomic research projects. including the development of software pipelines for the processing and high-level analysis of next-generation sequence data, including chromatin immunoprecipitation (ChIP-seq) and RNA-seq data.
• Share scientific information by writing portions of scientific manuscripts and presenting data in seminars and poster sessions.
• Collaborate with staff on teaching activities, in both small- and large-group fora.
• Provide one-on-one training to NHGRI/DIR bioinformatics trainees with regards to all aspects of developing new pipelines for the analysis of high-throughput data and the optimization of code for use in supercomputing environments.
• Provide detailed project documentation so that all methodologies can be reproduced and applied to similar studies in the future.

REQUIREMENTS

• Ph.D. in genomics, bioinformatics, or a related discipline. Three (3) years of specialized experience plus a Master's degree considered to be equivalent to a Ph.D.
• A minimum of (2) years of post-degree relevant bioinformatics experience, including demonstrated experience in running the GATK pipeline to call sequence variants and building warehouses to store, query, and display the resulting genotypes
• Two (2) years professional experience programming in Perl, Python or an equivalent scripting language
• Demonstrated experience in developing and deploying applications on UNIX or Linux platforms in a high-performance computing (HPC) environment
• Strongly qualified applicants will also have:
  
  • Knowledge and experience with full-stack web application development, particularly using MongoDB, Python (Flask framework), and javascript (React, jquery)
  • Knowledge and demonstrated experience analyzing other types of next-generation sequencing data, (e.g., RNA-seq, ChIP-seq, or related data)
  • Demonstrated success in sharing scientific information, through the writing of scientific manuscripts and the oral presentation of data in seminars and poster sessions
  • Strong communications skills, both oral and written
  • Fluency in both written and spoken English
  • Excellent analytical, interpersonal, organizational and time management skills
  • Proven critical-thinking skills and demonstrated ability to manage and interpret large biological data sets

LOCALE

HOW TO APPLY

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