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Pacific Northwest Research Institute (PNRI) is seeking a Bioinformatician for the Carvalho lab who will focus on investigating the molecular basis of rare human genetic diseases.  This position requires the ability to analyze complex research problems and will involve the development, implementation and use of computational methods and tools for using short and long-read next-generation sequencing to study the human genome. We are seeking a candidate who can work as part of a multidisciplinary team of scientists and researchers.

You will be part of a collaborative project aimed at genotyping, and molecular characterization of the genome of patients and family members with Mendelian genetic diseases. Our project aims to identify and characterize structural variants, single-nucleotide variants and indels in probands as well as family members using genetic analysis and next-generation sequencing protocols (e.g., BWA, GATK, Samtools, and SMRT Link).  Discovery of new DNA variants affecting genes that can cause disease, analysis of parents and proband (de novo analysis) using a wide range of bioinformatic tools and NGS methodologies will be central to the research. Data transfer and database maintenance, analysis of human databases and development of new bioinformatic tools will be part of the job. You will have daily interactions with lab members and PI as well as outside collaborators to work collaboratively in project development. Skill in manuscript writing is an essential qualification.

The successful candidate will be able to deploy, integrate, and maintain software and databases, and provide computational support of scientific projects related to research goals of the Principal Investigator.


  • Bachelor’s or master’s degree in bioinformatics, computer science, genetics, or related field plus two or more years of experience working with next-generation sequencing data and relevant tools for bioinformatics analysis, in either a professional or academic setting.
  • Working understanding of human genetics.
  • Competency with scripting languages (Python, R) and the Linux programming environment.
  • Experience working with command line-based software for genetic analysis and next-generation sequencing protocols (e.g., BWA, GATK, Samtools, and SMRT Link).
  • Ability to work, collaborate and communicate well within a multidisciplinary team.
  • Must be self-motivated and able to take initiative, work independently, and learn rapidly.
  • Strong organizational abilities.
  • Strong written and oral communication skills.

About PNRI:

PNRI is an independent, nonprofit research institute fueled by a mission to discover new solutions in the fight against disease. Our culture is designed for discovery, creativity, and collaboration. We are home to a multidisciplinary team of world-class scientists who are redefining genetic research.

How to Apply:

For immediate consideration, please submit a cover letter and resume (or curriculum vitae) to hr@pnri.org. No phone calls please.

PNRI is supported by

The SwedishTryskUSIPerkins CoieKnobbe MartensK L GatesLee & HayesAdaptive BiotechFirst PullSpecificaMatthew and Alayna Gagnier

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