Genomics Analyst - Rare Diseases
Genomics Data Scientists/ 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
• 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 email@example.com 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.