Bioinformatics Scientist 1 - Population & Medical Genomics - 7106BR

Illumina, Inc.
Job Location
San Diego, CA 92101
Job Description

Why is one person more likely to develop a disease, like cancer, than someone else?  Why would one person respond differently to treatment than another?  Illumina’s technologies are helping researchers and clinicians around the world answer these questions and others, on a scale not even possible a few years ago.
Illumina is the only life sciences company developing genome-wide technologies for genotyping, gene expression and sequencing—the three cornerstones of modern genetic analysis.  By enabling studies of thousands of patient samples at once, our products set genetic discovery on fast forward. And we’re just getting started.
The Population and Medical Genomics group develops tools used to sequence populations and identify genetic causes of rare diseases. They are seeking an exceptional individual to be part of the bioinformatics team in the Center for Population and Medical Genomics to help develop and bring these tools to market. This individual will work with our bioinformatics team in San Francisco, San Diego and Chesterford England to develop and implement innovative methods that transform sequencing results into discoveries and clinical insight that improve patient care. Your responsibilities may include:

  • Develop novel methods for assessing and comparing whole-genome sequence data and
  • Collaborate with our clinical lab to improve sequence analysis with an aim towards solving undiagnosed disease cases
  • Apply population genetics theory to large cohorts to develop novel methods of assessing data quality and improve variant calling pipelines
  • Develop methods to analyze sequence data as part of a larger population (pedigree or global) for improved variant calling
  • Critically evaluate variant calling and annotation pipelines to identify and fill gaps
  • Software/algorithm design and prototyping
  • Participation in sequencing analysis/methods development communities

Required Skills & Experience

  • PhD in bioinformatics, statistics, genetics, physics or related field of study
  • Strong understanding of statistics and statistical methods
  • Experience analyzing next-generation sequencing data
  • Expertise in high-performance software development using C++, Python, C#, C or Java
  • Exceptional ability to present methods in the research community via publication, conference and personal communications

Illumina believes that everyone has the ability to make an impact, and we are proud to be an equal opportunity employer committed to providing employment opportunity regardless of sex, race, creed, color, gender, religion, marital status, domestic partner status, age, national origin or ancestry, physical or mental disability, medical condition, sexual orientation, pregnancy, military or veteran status, citizenship status, and genetic information. 
About Illumina
Illumina is improving human health by unlocking the power of the genome.  If that inspires you, let’s talk. Having built a culture fueled by innovation, collaboration and openness, we’ve established ourselves as the global leader in DNA sequencing and array-based technologies. Our people and our technology change lives by driving advancements in life sciences, oncology, reproductive health, agriculture and other emerging markets. We are deeply passionate about what we do, because we know that our work has the power to improve lives.
We’re an established company with a track record of phenomenal growth. Our revenue grew from $10 million in 2002 to approximately $2.2 billion in 2015. Our growth isn’t just revenue; we’ve been hiring the best and the brightest. That’s why MIT ranked Illumina near the top of its World’s Smartest Companies list three years running, including #1 in 2014. If you thrive in a brilliant, fast-paced, and mission-driven environment, Illumina is the place for you – imagine the possibilities.

How to Apply

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