Sr Bioinformatics Scientist - 7431BR

Illumina, Inc.
Job Location
Santa Clara, CA 95050
Job Description

Do you want to make a difference? Illumina’s mission is to improve human health by unlocking the power of the genome. If that inspires you, let’s talk. We’ve built a culture fueled by innovation, collaboration and openness, and 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. Life at Illumina is about working with teammates who 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. Just check out our investor events and presentations to learn about our financial accomplishments. Our growth isn’t just in financials, we’ve been busy hiring the best and the brightest. Perhaps that’s why MIT has ranked Illumina near the top of its World’s Smartest Companies each of the last three years. If you thrive in a brilliant, fast-paced, and mission-driven environment, Illumina is the place for you. Join the journey of a lifetime. Join Illumina.

Senior Bioinformatics Scientist, Genome Interpretation



Up to 5 million human genomes and exomes are expected to be sequenced by the end of 2018, driven by steady innovations in sequencing technologies pioneered by Illumina. The enormous quantities of genomic data being generated by Illumina in collaboration with our partners worldwide represents a major opportunity to develop novel data-driven approaches to extract clinically actionable information from the genome, and apply it towards improving human health.


To accelerate the adoption of clinical sequencing, Illumina is recruiting an exceptional computational scientist with a strong quantitative background in statistical methods to lead a team focused on the development of novel algorithms for genome interpretation.  Key objectives would include classification of benign vs pathogenic variants by utilizing whole genomes and functional genomic data from hundreds of thousands of individuals with detailed clinical phenotypes, automated correction of variant calling errors, and reduction of interpretation time to minutes per case using automated algorithms.  Algorithms and methods will be published in peer-reviewed journals and released in software products in order to improve the accuracy, throughput, and reproducibility of genome interpretation, thereby removing barriers to clinical adoption of whole genome sequencing.  This position will require a high degree of initiative, autonomy, and scientific collaboration with academic and nonprofit partners, and the successful applicant should have a proven record of leadership working with diverse teams and consortia.




  • Lead the development of novel statistical algorithms for classifying variants of unknown significance by integrating information from detailed clinical phenotypes, functional genomics, selective constraint, and protein structure.
  • Lead a team to develop algorithms to perform automated rare disease genome interpretation, reducing interpretation time and increasing diagnostic accuracy and yield, and enabling the scalable analysis of 100,000’s of genomes.
  • Be the primary contributor for scientific collaborations with Illumina’s academic, nonprofit, and industry partners, and lead a multidisciplinary team focused on achieving these aims.
  • Publish and disseminate methods and findings and incorporate them into software products to the benefit of the wider genetics community.



  • Expert in genetic analysis of large cohorts of exome / whole genome data, variant analysis, association analysis, pedigree-based analysis, and quality control
  • Possesses strong communication skills, with the ability to present complex scientific ideas to clinical, scientific, and industry audiences.
  • Be willing to work in a fast paced, competitive environment, and hold a strong record of successful delivery of complex scientific projects and publications under tight timelines.



  • Advanced degree (PhD or MD) in statistical genetics, quantitative genetics, genomics, or computer science.




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. If you have a disability or special need that requires accommodation, please contact us at 858-246-8959. To learn more, visit:

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