Genome 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:
*[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 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 do not hesitate to contact Harvey Uppal at firstname.lastname@example.org or call (+44) 121 616 3407 to discuss this opportunity further.
Keywords: Rare, Disease, Analyst, Cancer, WGS, WES, Genomics, Bioinformatics, Germline, Somatic, Mutations, Clinical, Python, Pipelines, Statistics, Testing, Writing, Variants, Alignment, Statistical, Genetics, NGS, London.
You must be eligible to work in the UK. Learn more
- Agency: Paramount Recruitment
- Reference: CANRDAGEL
- Posted: 16th September 2020
- Expires: 14th October 2020