Bioinformatics Scientist - Rare Diseases

Bioinformatics Scientist – Rare Diseases
- London – Flexible working

This large research institute in London are seeking a talented Bioinformatician to join their Rare disease team. Your work and research will help to develop personalised genetics medicines for the benefit of the population.

You will work closely with a team of talented of Data Scientists / Bioinformaticians bench marking and fine-tuning tools for processing and analysis of whole genome sequencing data. You will be responsible for performing custom computational analysis for rare disease samples, whilst also developing and implementing algorithms for the classification and prioritisation of variants.

Key Responsibilities-

• - Fine tuning tools for quality control, processing and analysis of Whole Genome Sequencing data ( WGS )
• - Developing algorithms for variant prioritisation and classification to improve performance
• - Custom computational analysis for a range of projects within Rare Diseases
• - Developing, prototyping, and validating new features for genome analysis in collaboration with internal and external stakeholders
• - Establishing general Bioinformatics resources for the companies use.

  
Ideally you will have –

• - Strong knowledge 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 high throughput sequencing algorithms and available resources.
• - Experience with full cycle of analysing NGS data; from sequencing QC to annotation and prioritisation of variants.
• - Strong programming skills (Python / R)
• - Excellent ability to represent and visualise data to derive insights
• - Experience in handling large data sets
• - Ability to communicate effectively within a multidisciplinary team
• - Experience collaborating on code with others with a good working knowledge of Git

  
This is a great opportunity to join a fantastic company who are well respected world wide, some of the amazing benefit they offer include: 30 days annual leave, individual learning budgets, and generous pension scheme.

If you would like to apply or hear more about this opportunity please do not hesitate to contact me either via email cbeasley@pararecruit.com or phone 01216163466.

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;
Bioinformatician / Bioinformatics / Data scientist / Rare disease / rare diseases / WGS / Whole genome sequencing / Genomics / Genome / DNA analysis / Python / Programming / Computational biologist / computational biology / large data sets / variant calling / personalised medicine