Genomic Data Scientist (we have office locations in Cambridge, Leeds & London)
Full-time Not ApplicableJob Overview
We are seeking a passionate and innovative Genomic Data Scientist to join our cutting-edge team.
You will work in an agile collaborative environment as part of multidisciplinary team, building state-of-the-art analytics into clinically fit production quality solutions plus implement robust, scalable analysis fit for clinics.
Everyday responsibilities include:
- Researching the scientific literature, identifying new approaches to genome analysis, as well as contributing to the publication and dissemination of our learnings in the form of scientific papers, white papers and conferences.
- Developing and fine-tuning algorithms for variant prioritisation and classification for rare disease diagnostic and screening.
- Benchmarking and improving tools for processing and analysis of whole genome data (e.g. alignment, variant callers, quality control), and performing custom computational analyses.
We anticipate the ideal candidate will have experience in:
- One or more areas of human germline DNA analysis, such as rare disease genomics, population genetics, family-based analysis, genetic association testing, risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR.
- Strong programming skills (Python essential, R desirable).
- Knowledge of statistics and/or statistical genetics and/or machine learning.
- Experience of high throughput sequencing algorithms.
- Managing the full cycle of analysing high-throughput sequencing data from sequencing quality control to annotation and prioritisation of variants, preferably human whole genome sequencing data.
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