The University of Washington Center for Mendelian Genomics (UW-CMG) is one of several centers supported by the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute of the National Institutes of Health with an overall goal of identifying the genetic basis of Mendelian conditions for which the underlying cause is unknown. The UW-CMG performs exome sequencing (ES), whole genome sequencing (WGS), and /or analysis of ES/WGS data for investigators around the world who are studying Mendelian conditions. The UW-CMG also analyzes ES/WGS data and clinical information from families with Mendelian conditions who have undergone clinical testing but no responsible gene has been identified.
The Department of Genome Sciences at the University of Washington has an outstanding opportunity for a Bioinformatics Analyst in the Center for Mendelian Genomics (UW-CMG). The Analyst will be responsible for managing, analyzing, and reporting their findings for Mendelian phenotypes studied at scale while working closely with clinicians and other UW-CMG team members. This individual will take a principal role in solving rare Mendelian diseases that are submitted to the UW-CMG as well as participating in developing and/or implementing new software tools to facilitate this goal.
The Bioinformatics Analyst will play an important role in finding causal mutations and genes for rare diseases/Mendelian conditions through the UW-CMG. The position requires the ability to dissect and tackle challenging research questions using a multitude of software tools used to analyze next-generation sequencing data. The position demands organization, attention to detail, and tenacity in determining the genetic underpinning of rare, unsolved Mendelian conditions.
Core responsibilities include the following:
Bioinformatics – (100%)
- Thrive in a fast paced work environment that requires independent self-direction with an aptitude for team collaboration and open communication.
- Work closely with investigators and team members to solve Mendelian projects.
- Participate in designing, developing and implementing new tools for solving mendelian diseases.
- Develop detailed reports on Mendelian analysis, highlighting best gene candidates for explaining phenotype.
- Provide support in writing manuscripts, abstracts and presentations.
- Present analysis findings at group meetings and national conferences.
- Other duties may be assigned.
In general, the UW-CMG releases multiple projects each month.The Bioinformatics Analyst is expected to respond immediately to questions from investigators, provide support for investigators and conduct their own analysis of the data. The analyst is expected to release a detailed report on their analysis to the investigator within one month of data release. The UW-CMG is a highly collaborative environment and there is a significant amount of interaction with internal and external groups.