Salary per annum - £37,398 - £44,799
Fixed Term - 3 years
Open Targets has recently launched Open Targets Genetics (https://genetics.opentargets.org), a portal that aggregates large scale GWAS data with functional genomics data to identify potential drug targets at disease-associated loci.
A Statistical Geneticist role is available at the Wellcome Sanger Institute in the Open Targets Genetics team under the leadership of Dr. Maya Ghoussaini. This is an exciting opportunity for you to participate in the enhancement of the Open Targets Genetics Portal (https://genetics.opentargets.org) through the development of new functionality and features.
The Open Targets Genetics portal uses cutting-edge methods to aggregate large scale GWAS data with functional genomics data to identify potential drug targets at disease-associated loci.
In this role, you will be actively engaged in the integration of new GWAS data (FinnGen, Biobank Japan, etc), eQTL datasets including splice QTLs and tissue-specific functional genomic datasets.
You will develop and apply computational pipelines to elucidate causal mechanisms through integrative analyses of data from GWAS, eQTL/pQTL, chromatin interactions and conformation, biobanks, and other related sources to identify and prioritise drug targets.
You will have the opportunity to work across a range of analyses, such as:
• Integrate genetic and cell-specific genomic data to identify and validate causal links between targets and diseases and improve the Genetics Portal.
• Use Machine Learning approaches to refine the prioritisation of genes at GWAS-associated loci using cell- specific functional genomics data and expanded curated list of Gold Standard positives.
• Benchmark different statistical methods for fine-mapping and co-localisation analysis.
• Use rare variants analyses to inform drug target identification, prioritisation and safety.
• Perform association analysis on UK Biobank data with a particular focus on therapeutic areas important for Open Targets.
• Explore the use of Polygenic risk Score (PRS) for population stratification in the Open Targets Genetics Portal.
• Work together with other members of the Open Targets team on statistical genetics analysis for large scale sequence analysis.
You will also interact with active computational and experimental research teams, at Sanger and other Open Targets partners, using state of the art genomic techniques.
- PhD in Statistical Genetics, or a closely related discipline.
- Advanced level programming skills suitable for statistical genetic and computational analyses, such as Python.
- Experience with statistical methods of complex and rare disease genetics such as genome wide association studies, fine-mapping, high-throughput expression data, whole exome/genome sequencing analyses, PheWAS, Mendelian Randomisation and Polygenic Risk Scores.
- Experience in functional genomics data analysis and integration (RNAseq, ChIPseq, etc);
- Familiarity with network analysis.
- Previous experience in working with large-scale genetic datasets.
- Ability to work to tight timelines.
- Demonstrable good project management and organisational skills.
- Fluent in written and spoken English.
- Ability to communicate ideas and results effectively.
- Ability to work independently and organise own workload.
- Experience with generating reproducible bioinformatics pipelines and improving the modularity of their processing;
- Experience with machine learning approaches
- A strong track record in preparing publications and other written materials;
- Interest in target validation and translational research.
About Open Targets
Open Targets is a pioneering public-private partnership between EMBL-EBI (European Bioinformatics Institute), GlaxoSmithKline (GSK), the Wellcome Sanger Institute (Sanger), Celgene, Sanofi and Takeda, located on the Wellcome Genome Campus in Hinxton, near Cambridge, UK.
Open Targets brings together expertise from six complementary institutions to generate evidence on the biological validity of therapeutic targets and provide an initial assessment of the likely effectiveness of pharmacological intervention on these targets, using genome-scale experiments and analysis. Open Targets aims to provide an R&D framework that applies to all aspects of human disease, to improve the success rate for discovering new medicines and share its data openly in the interests of accelerating drug discovery.
The Wellcome Sanger Institute is a world leading genomics research centre. We undertake large-scale research that forms the foundations of knowledge in biology and medicine. Our findings are used to improve health and to understand life on Earth. Find out more at www.sanger.ac.uk or follow us on Twitter, Facebook, LinkedIn, Youtube and on our Blog.
Set across 130 acres, just outside of Cambridge, The Sanger Institute is located on the stunning Wellcome Genome Campus. Home to some of the world's foremost institutes and organisations in genomics and computational biology, committed to delivering life-changing science with the reach, scale, and creativity to solve some of humanity's greatest challenges.
There’s an attractive benefits package on offer at the Genome Wellcome Campus. We appreciate the importance of achieving work-life balance and support this with a number of family and carer-friendly policies. Plus a flexible working policy for those who may wish to amend their working pattern or arrangement.
As well as the usual benefits you would expect, we go much further:
- 25 days annual leave (extra 1 day to a maximum of 30 days for every year you work)
- Auto-enrolment into a generous Group Defined Contribution Pension Scheme, with enhanced company contribution
- Up to 2 days annual paid volunteering leave
- Up to 10 days paid Emergency Carers Leave per year
- Family friendly environment including options for flexible and part-time working, an on-site Workplace Nursery salary Sacrifice Schemes for pre-school children and Summer holiday club
- Life Assurance Cover and a Group Income Protection Scheme (if on a contract of 12 months or more)
- Enhanced maternity leave and parental leave
- Access to substantial number of courses and training events onsite
- Private Healthcare Scheme (after 6 months service)
- Eyecare and Dental payment plans
- Concessions and discounts from our corporate perks site
Being part of the Genome Wellcome Campus you will be part of the beautiful working environment with an impressive range of benefits, services and facilities also including:
- Free bus service to and from Campus, covering various routes around Cambridge, Saffron Walden and surrounding villages
- A car-share initiative
- Free parking
- A number of on-site venues where you can meet, eat and socialise with colleagues
- A thriving Sports and Social Club which provides members with subsidised access to a gym, tennis courts, sports hall, fitness classes and a vibrant social calendar of events
Please apply for this role through this link - https://jobs.sanger.ac.uk/vacancy/statistical-geneticist-open-targets-41...
Please include a covering letter and CV with your application.