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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.
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