Staff Bioinformatics Scientist

at  Illumina

What if the work you did every day could impact the lives of people you know? Or all of humanity?
At Illumina, we are expanding access to genomic technology to realize health equity for billions of people around the world. Our efforts enable life-changing discoveries that are transforming human health through the early detection and diagnosis of diseases and new treatment options for patients.
Working at Illumina means being part of something bigger than yourself. Every person, in every role, has the opportunity to make a difference. Surrounded by extraordinary people, inspiring leaders, and world changing projects, you will do more and become more than you ever thought possible.
Staff Bioinformatics Scientist -
Based in the UK, Cambridge, Hub and Hybrid, onsite or Remote.
Additional location: Singapore, Woodlands - Onsite only
Our Deep Learning, Research and Development Team, are looking at growing the team in 2024 and we invite those with exceptional deep learning, AI, bioinformatics skills to apply to work on the development of novel deep learning algorithms for deciphering the effects of genetic variants in the human genome.
Position Summary:
Hundreds of millions of human genomes and exomes are expected to be sequenced over the next decade, 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 and artificial intelligence methods to extract clinically actionable information from the genome, and apply it towards improving human health.
To accelerate the adoption of clinical sequencing, Illumina is seeking expression of interests from world-class computational scientists to work on the development of novel deep learning algorithms for deciphering the effects of genetic variants in the human genome. Major aims would include modeling the effects of genetic variants on protein function, transcriptional regulation, and diagnosis of pathogenic variants in patients with cancer or rare genetic diseases.
A key objective is to publish research results in peer-reviewed journals to improve the accuracy, throughput, and reproducibility of genome interpretation, thereby removing barriers to clinical adoption of whole genome sequencing. In addition to strong analytical skills, this position will require a high degree of initiative, autonomy, and scientific collaboration.

Position Responsibilities:

• Lead the development of novel algorithms for deciphering the human genetic code, diagnosing pathogenic genetic variants by combining information from detailed clinical phenotypes and medical records and genomic data.
• Lead 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.
• Listed responsibilities are an essential, but not exhaustive list, of the usual duties associated with the position. Changes to individual responsibilities may occur due to business needs.

Position Requirements:

• Expert in deep learning, statistics, and genomics
• 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.

All listed requirements are deemed as essential functions to this position; however, business conditions may require reasonable accommodations for additional task and responsibilities.

Preferred Experience/Education/Skills:

• MD or PhD in computer science, genetics, computational biology, or related field.

Illumina believes that everyone has the ability to make an impact, and we are proud to be an equal opportunities 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

• Lead the development of novel algorithms for deciphering the human genetic code, diagnosing pathogenic genetic variants by combining information from detailed clinical phenotypes and medical records and genomic data.
• Lead 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.
• Listed responsibilities are an essential, but not exhaustive list, of the usual duties associated with the position. Changes to individual responsibilities may occur due to business needs