bioinformatics Analyst

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Job description

As a UW employee, you have a unique opportunity to change lives on our campuses, in our state and around the world. UW employees offer their boundless energy, creative problem solving skills and dedication to build stronger minds and a healthier world.

UW faculty and staff also enjoy outstanding benefits, professional growth opportunities and unique resources in an environment noted for diversity, intellectual excitement, artistic pursuits and natural beauty.

About Genome Sciences:

The Department of Genome Sciences (GS) is part of the University of Washington School of Medicine (UW SoM) and is comprised of 30 labs addressing leading edge questions in biology and medicine by developing and applying genetic, genomic and computational approaches taking advantage of genomic information now available for a host of species. GS is making major contributions in the application of genome science to understand the fundamentals of biology and to improve human health and well-being.

Genome Sciences is a collaborative department supported by very different academic disciplines. We work with a multitude of Program Investigators (PIs) in departments both on the UW campus as well as worldwide. The department has gone through significant expansion since its beginning in 2001 with annual grant awards of $68.5M in FY21. The department has 62 training, teaching, and research faculty.

Position Purpose

The Department of Genome Sciences has an outstanding opportunity for a Bioinformatics Variant Review Analyst. The position will play an important role in the All of Us Research Program. This individual will review and interpret genetic variants from genomic-based next generation DNA sequencing and assist lab directors with interpretation and reporting. This includes the review of genetic panels based on clinical genomes, and other advanced diagnostic testing applied to large research studies providing expert interpretation, and developing novel methods and techniques to analyze data.

Position Complexities

The Northwest Genomics Center (NWGC) at the University of Washington is one of the leading genome centers in the United States. The NWGC, housed within UW Medicine's Department of Genome Sciences, is the largest self-sustaining genome center in the Pacific Northwest and one of the most successful genome centers in the country. It has partnered to deliver exome or whole genome sequence (WGS) data for many highly successful large-scale human genetic projects of both rare conditions and common diseases. These projects include the Mendelian Genomics Research Consortium (MGRC), the NHLBI Trans-Omics for Precision Medicine Program (TOPMed), and, most recently, the All of Us program that has the goal of sequencing one million Americans.

RESPONSIBILITIES

Bioinformatics Research - (100%)

Responsible for review and interpretation of genomic results under direction of clinical laboratory Directors and staff.

Develop and coordinate data analysis strategies and implementation for large research projects.

Responsible to review genomic data and maintain the active knowledgebase for variant interpretation.

Update variant curation strategies, variant scoring process, interpretation process, and reporting process on an ongoing basis.

Develop expertise in interpreting genetic data from open source and proprietary analysis software and databases.

Support/design of software tools to assist in more efficient variant review for the variant review scientist and affiliated faculty.

Thrive in a fast-paced work environment that requires independent self-direction with an aptitude for team collaboration and open communication.

Provide support in writing manuscripts, abstracts and presentations.

Present analysis findings at group meetings and national conferences, if necessary.

Dimensions and Impact to the University

This position will play a principal role in supporting the various NGS variant analysis workflows in the NWGC which provides core resources for other programs at UW (e.g. All of Us Research Program and Mendelian Genomics Research Consortium).

MINIMUM QUALIFICATIONS

Master's Degree in genetics, genomics, bioinformatics, molecular biology, chemistry, biochemistry or related discipline and one year of related experience.

ADDITIONAL REQUIREMENTS:

Excellent understanding of human genetics and variant interpretation.

Strong knowledge of exploratory data analyses.

Documented experience with ClinVar, ClinGen, and ACMG standards and recommendations for variant reporting.

Ability to manage projects and solve problems independently.

Excellent collaborator with interdisciplinary teams.

Strong written and oral communication skills.

DESIRED QUALIFICATIONS

Ph.D., or foreign equivalent, in human genetics, bioinformatics, computer sciences, or related field.

Knowledge of clinical standards for medically relevant variants and their interpretation

Knowledge of laboratory information systems (LIMS) design and implementation

Knowledge of CLIA/CAP policies and procedures for best laboratory practices

WORKING CONDITIONS

The Bioinformatics Analyst position is expected to respond immediately to questions from investigators, teammates, and provide expert technical support for developing, reports or trouble-shooting workflows. On occasion, it will be neceessary to respond immediately to urgent questions from the P.I. and other managers if problems arise that impact the work flow or deadlines for the NWGC production center - these tend to happen on a weekly basis and occasionally require extra hours be worked on a given day.

Application Process:

The application process for UW positions may include completion of a variety of online assessments to obtain additional information that will be used in the evaluation process. These assessments may include Work Authorization, Cover Letter and/or others. Any assessments that you need to complete will appear on your screen as soon as you select "Apply to this position". Once you begin an assessment, it must be completed at that time; if you do not complete the assessment you will be prompted to do so the next time you access your "My Jobs" page. If you select to take it later, it will appear on your "My Jobs" page to take when you are ready. Please note that your application will not be reviewed, and you will not be considered for this position until all required assessments have been completed.

Applicants considered for this position will be required to disclose if they are the subject of any substantiated findings or current investigations related to sexual misconduct at their current employment and past employment. Disclosure is required under Washington state law.