Bioinformatics Specialist I - Eichler Lab

We are currently seeking a highly skilled Bioinformatics Specialist I to work full-time in the lab of Dr. Evan Eichler at University of Washington School of Medicine. The Eichler lab is interested in the disease and evolutionary impact of gene duplication and other complex forms of human genetic variation. Specifically, they apply advanced genome sequencing methods to understand how segmental duplications give rise to new genes and recurrent rearrangements associated with the neurodevelopmental delay, including autism. More information can be found on the lab .

The Bioinformatics Specialist I will collaborate with the Investigator, postdoctoral fellows, and students to develop, implement, and execute computational methods and tools to assess the organization of recent segmental duplications and structural variation using next-generation Illumina and long-read technologies.

This role will focus on the discovery of genetic variation relevant to neurocognitive disease, including autism, and will work as part of sequencing consortia to develop methods to sequence and assemble genomes at higher quality. The successful candidate will independently perform scientific investigative procedures applying professional judgment, interpreting experimental results, guiding lab members through bioinformatics methods and analyses, and preparing research reports for presentation or publication.

For consideration for this position, please apply directly through the application website and do not contact the lab directly. Please be sure to include a cover letter with your application.

Responsibilities

• Develop and maintain algorithms and computational tools to detect duplications, copy number variants, and single-nucleotide polymorphisms using data generated from genome sequencing projects. (40%)

• Create tools to create, manage, and analyze next-generation sequencing datasets using massively parallel computing infrastructure (2500+ CPUs). (20%)

• Develop programs and/or scripts, including graphical visualization software, to facilitate large-scale data mining of the genome, genetic, and expression databases. (15%)

• Collaborate with postdoctoral and doctoral researchers and work independently on research projects as assigned by the Investigator. The latter will include the preparation of summaries and reports to be included in publications. (15%)

• Integrate analysis data into existing genome browser. (10%)

Lead Responsibilities (if applicable)

• Supervise and manage massively parallel computing infrastructure including 2,500+ CPUs, 3+ PB of shared storage, and standalone web and database servers in collaboration with departmental IT staff.

• Deploy and manage shared software and reference resources.

• Guide the work of junior-level programmer analysts as well as computational students as needed.

Qualifications

Education

• Bachelor's degree in bioinformatics, computer science, or similar discipline is required. Master's degree is preferred.

Experience

• At least 2-3 years of relevant research experience in bioinformatics and/or computational biology is required.

• Experience in genomics research is required including at least 3 years of experience developing computational methods and tools used in bioinformatics research.

• In-depth understanding of data structures, algorithm design, and software implementation

  • Experience with PacBio, Oxford Nanopore, 10X, or Strand-seq technologies desired but not required

• Extensive experience in two or more programming languages (Python, R, Java, C/C++, Perl, etc.); experience with Python and its scientific libraries (NumPy, SciPy, Pandas, Snakemake).

• An understanding of common bioinformatics file formats (FASTQ, SAM/BAM, VCF, BED).

Knowledge, Skills, and Abilities

• Proficient skill with integrating data and systems.

• Proficient skill with existing bioinformatics software tools (e.g., BWA, GATK, BLAST, CLUSTALW, MEGA), particularly data mining of whole-genome shotgun sequence data analysis.

• Skilled with Linux/Unix and comfortable working in a command line environment.

• Ability to perform independent analyses and report findings to both national and international collaborative groups.

• Technical proficiency and collaborative ability as well as independent thought.

• Ability to develop innovative processes to achieve goals. Reviews work activities to determine where new information could improve processes or move projects forward.

• Ability to work independently and as part of a multidisciplinary team.

• Strong organizational skills with exceptional attention to detail.

• Strong multitasking and project management skills.

• Ability to be flexible and effectively adapt to changing priorities.

Compensation and Benefits

Our employees are compensated from a total rewards perspective in many ways for their contributions to our mission, including competitive pay, exceptional health benefits, retirement plans, time off, and a range of recognition and wellness programs. Visit our site to learn more.

Compensation Range

Pay Type:

HHMI's salary structure is developed based on relevant job market data. HHMI considers a candidate's education, previous experiences, knowledge, skills and abilities, as well as internal equity when making job offers. Typically, a new hire for this position in this location is compensated between the minimum and the midpoint of the salary range.