3 weeks ago

Bioinformatician- Rare Disease

London Competitive Permanent

Job Reference: 25346

Rare Disease Genomics Analyst 


London, Flexible 


I am working with a client in London who is looking for a rare disease analyst to join their team of talented data scientists who work to provide support to their research partners, ensuring they can gain the minimum value from the data they have collected from the beginning. 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 Accountabilities 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




Key Skills Include:

  • 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
  • WGS experience
  • 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 their ability to conceive and carry to conclusion scientific investigations
  • Excellent ability to represent and visualise data to derive insights
  • A demonstrable ability to cope under pressure and deliver to deadlines
  • Experience in handling large data sets
  • Ability to communicate effectively within a multidisciplinary team
  • Flexible and co-operative approach to colleagues
  • Experience and flexibility to collaborate on code with others including good working knowledge of Git
  • Ability to work independently and to show initiative within a team
  • Ability to prioritise and balance competing demands


There are some great benefits on offer with this role including a competitive salary, pension, generous holidays and more.

Please get in touch with Sabrina to find out more about this role- sdeo@pararecruit.com

Keywords: Rare, Disease, Analyst, Cancer, WGS, WES, Genomics, Bioinformatics, Germline, Somatic, Mutations, Clinical, Python, Pipelines, Statistics, Testing, Writing, Variants, Alignment, Statistical, Genetics, NGS, London.

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