Bioinformatician - Rare Disease or Cancer London * Flexible Working *
I am working with a client in London who is looking for a rare disease bioinformatics scientist to join their team of talented data scientists who work to provide support to their research partners.
You will play an important part in ensuring this data can be used to the fullest to advance research into how personalised genetic medicine can become a reality.
Their Analysts investigate and develop solutions to extract more information from the genome (alignment and variant calling) and to interpret the genome in the context of a persons clinical features.
They work as part of squads building and translating state of the art analytics into clinically-fit production quality solutions. Key Responsibilities Include:
Key Skills Include:
- Benchmarking and fine-tuning tools for quality control, processing and analysis of whole genome sequence data, e.g., alignment, variant callers for types of variants
- Develop algorithms for variant prioritisation / classification to improve their diagnostic potential or actionability
- Performing custom computational analysis for a range of projects in rare disease/germline or cancer/somatic samples and carefully document results using reproducible computing principles
- Developing, prototyping, and validating new features for genome analysis in collaboration with internal and external stakeholders
- Work with other squad members to ensure that solutions are implemented in a robust, scalable, fit for clinic, accredited, production ready for converting prototypes to production pipelines
- Continuously scan the scientific literature to identify new approaches to genome analysis that can be implemented to improve our capabilities
- Contribute to the publication and dissemination of our learnings in the form of scientific papers, white papers, conferences, etc
- Establishing general bioinformatics resources for day-to-day use by colleagues
- Know and understand the meaning behind our virtues of Empathy, Integrity, Focus, Connection, Speed, Curiosity, Impact and embody them in all aspects of your role
- [RD] Excellent knowledge and experience in one or more areas of human DNA analysis, such as rare disease genomics, family-based analysis, genetic association testing, risk score prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
- [Cancer] Excellent knowledge in cancer genomics, approaches to call somatic variation and interpret cancer genomes.
- Strong knowledge of statistics and/or machine learning
- Strong knowledge of high throughput sequencing algorithms and available resources. Experience with full cycle of analysing NGS data from sequencing QC to annotation and prioritization of variants.
- Strong programming skills (Python, R)
- Excellent technical writing skills
- A decent publication record demonstrating your ability to conceive and carry to conclusion scientific investigations
- Excellent ability to represent and visualise data to derive insights
In return this dynamic company are offer a great range of benefits including competitive salary, pension, generous holiday allowance and investment in employees development.
If you would like to apply or hear more about this opportunity please do not hesitate to contact me either via email email@example.com or phone 0121 616 3466.
Furthermore, if you are interested in hearing about other roles within the Bioinformatics and Genomics industry, please feel free to contact me for a confidential discussion.
Keywords: Rare, Disease, Analyst, Cancer, WGS, WES, Genomics, Bioinformatics, Germline, Somatic, Mutations, Clinical, Python, Pipelines, Statistics, Testing, Writing, Variants, Alignment, Statistical, Genetics, NGS, London.