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Senior Rare Disease Analyst

Bioinformatics, Central London, Permanent!

Paramount are working in partnership with Genomics England to expand their team in order to deliver success with the 100,000 Genomes Project. This is a challenging and fast moving project with the aim to carry out whole genome sequencing on 100,000 participants.
Genomics England are integrating phenotypic and other clinical data with whole genome sequencing to create a world-leading, high-fidelity data repository for NHS England and third party users. They will now apply their expertise to supporting NHS England’s Genomic Medicine Service.

Currently their Bioinformatics team are now looking for a Senior Rare Disease Analyst to join them on a permanent basis.

Your main responsibilities as a Senior Rare Disease Analyst will be:
*Analysing rare diseases and studying non-tumour genomes
*Benchmarking tools for quality control, processing and analysis of whole genome sequence data, e.g, alignment, variant callers for variants of different size ranges
*Performing custom analysis for a range of projects
*Developing and prototyping new features for genome analysis in collaboration with internal and potentially external stakeholders
*Collaborating with software developers responsible for converting prototypes to production pipelines
*Establishing general bioinformatics resources for day-to-day use by colleagues

The ideal Rare Disease Analyst will fulfil the following criteria:
*MSc or PhD (or equivalent experience) in Bioinformatics or relevant subject or equivalent
work experience
*Expertise in one or more areas of human DNA analysis, such as rare disease genomics,
family based analysis, genetic association testing, common disease genomics / risk score
prediction, structural variation, pharmacogenomics, typing of complex genomic regions such as HLA/KIR
*Relevant professional experience, e.g. postdoctoral
*Substantial hands-on experience analysing exome or whole genome sequencing data
*Familiar with Unix and use of high performance computing clusters
*Proficient in using R and/or Python to manipulate, visualise and analyse data and achieve
tasks programmatically
*Familiar with software version control

Genomics England works with key partners to collect, transport, store, quality check and sequence the samples from participants. They are working with the NHS to launch the world’s first Genomic Medicine Service. Patients will have access to personalised treatment when there was no option for them before.

In return you will receive a competitive salary and the opportunity to make a real difference and contribute to the project at its most exciting phase. Due to growth they also have new modern offices. If you’d like to know more about the position and apply, please feel free to contact Anna with an up-to-date CV ( or +44 (0) 121 616 3469).

Keywords: Bioinformatician, rare disorder, Rare Disease Analyst, NGS, Next Generation Sequencing, Cancer, Genomics, Genetic data, Clinical data, Data Analysis, Python, R, genome sequencing, whole genome, rare variants, WGS, NGS, Scientist, Bioinformatics, UK, London

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