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Postdoctoral Fellow in Human Genetics/Precision Medicine

Salary in the region of £31,503 - £39,492 (dependent on experience) plus excellent benefits

Fixed term for 3 years

We are looking for two enthusiastic and skilled post-doctoral fellows in Precision Medicine to join the Soranzo team at the Wellcome Sanger Institute (http://www.sanger.ac.uk/research/faculty/nsoranzo/). The post will suit ambitious and talented individuals who are interested in applying their skills to dissect the genetic basis of human disease.

The Soranzo team at the Sanger Institute studies genomic predisposition to cardiometabolic and immune disease risk. In the last ten years, we have led international efforts to discover genetic variants associated with both established and emerging risk factors in cardiovascular disease, diabetes and immunity. Distinguishing features of our research are the focus on large-scale science, the use of genome sequencing for genomic exploration, and a focus on high-dimensional (‘omic’) phenotypes, including metabolomics and gene expression phenotypes.

The large-scale application of genome-sequencing to large cohorts of tens to hundreds of thousands of individuals pose a problem of scale and unique analytical challenges. First, the deep phenotyping already available in these cohorts, with thousands of phenotypes measured in a single individual, will require the implementation of scalable analysis tools or robust multivariate analysis methods that can deal with the breadth and depth of these datasets. Second, genome sequencing will bring along challenges in the discovery, interpretation and downstream assessment of rare and private variants, which need to be tackled in order to fulfill the potential of sequencing data in personalized medicine. 

As part of a Sanger-led initiative in Precision Medicine, we are performing whole-genome sequencing of thousands of individuals from healthy population based cohorts, for instance the extensively phenotyped UK-wide INTERVAL study (see http://www.intervalstudy.org.uk for further information). The successful candidates will be primarily responsible for deploying state-of-the art genetic analysis to whole-genome sequencing datasets in a UK population-based cohort. The main aim of this analysis will be the discovery and in-depth characterisation of novel associations with cardiometabolic phenotypes, including high-dimensional haematology and metabolomic measurements and risk factors for cardiometabolic disease. Analyses will focus on both rare sequence genetic variation, and other types of variation such as telomere length polymorphisms and different classes of copy number and structural variants. Depending on skills and interest, there will be opportunities to develop research projects focusing on different aspects of the data, and/or in-depth analyses of specific traits or loci. The appointed researcher will be embedded in an interdisciplinary team of computational scientists, bioinformaticians, statisticians and wet lab scientists. The results will inform efforts to characterise the properties and function of rare and low-frequency sequence variation affecting human complex phenotype.

The project will also involve collaboration with the research groups within the Human Genetics department at the Sanger Institute (primarily Dr Matthew Hurles), and the Cardiovascular Epidemiology Unit (CEU), Department of Public Health and Primary Care, University of Cambridge (Professor John Danesh and Dr Adam Butterworth).

Job Reference
83233

Essential Skills

  • Applicants should have a PhD in a highly numerate subject (e.g. mathematics, statistics or statistical genetics) or have a degree in another subject coupled with extensive experience working with quantitative data 
  • Firm grasp of univariate statistical analysis fundamentals necessary. Experience with multivariate statistics or statistical modelling a plus 
  • Firm grounding in statistical methods for genetic data analysis 
  • Documented previous expertise in complex human traits or disease 
  • Documented experience with statistical analysis tools for genetic data 
  • Ability to review, synthesise, and present scientific data and methods. Good writing and verbal communication skills 
  • Track record of delivering complex scientific projects through to publication 
  • Excellent communication, organisational and problem-solving skills 
  • Ability to work to tight timelines, both independently and as part of a team 
  • Ability to communicate efficiently with a diverse array of scientific expertise 
  • Enthusiasm, commitment and attention to detail 
  • Ability to independently develop, assimilate and deploy a research theme 
  • Experience in working with the statistical programming languages 

Ideal Skills

  • Experience in working with whole-exome or whole-genome sequence data 
  • Documented experience analysing large-scale genetic datasets 

Other information

The Wellcome Sanger Institute is a charitably funded research centre and committed to training the next generation of genome scientists. Focused on understanding the role of genetics in health and disease and a world leader in the genomic revolution, our mission is to use genome sequences to advance understanding of human and pathogen biology in order to improve human health. We aim to provide results that can be translated into diagnostics, treatments or therapies that reduce global health burdens. Our science is large-scale and organised into Programmes, led by our Faculty who conceive and deliver our science, and supported by our Scientific Operations teams responsible for all data production pipelines at the Institute.

Our Campus: Set over 125 acres, the stunning and dynamic Wellcome Genome Campus is the biggest aggregate concentration of people in the world working on the common theme of Genomes and BioData. It brings together a diverse and exceptional scientific community, committed to delivering life-changing science with the reach, scale and imagination to pursue some of humanity’s greatest challenges.

Our Benefits: Our employees have access to a comprehensive range of benefits and facilities including:

  • Group Defined Contribution Pension Scheme and Life Assurance
  • Group Income Protection
  • Private Health Insurance
  • 25 days annual leave, increasing by one day a year to a maximum of 30
  • Family friendly environment including options for flexible and part-time working, a childcare voucher scheme, Campus Nursery and Summer holiday club
  • Two days paid Employee Volunteering Leave a year
  • Employee Discount Scheme
  • Campus Gym, tennis courts, cricket pitch and sports hall plus a range of dining facilities
  • Active Campus Sports and Social Club
  • Free Campus Bus Service

Genome Research Limited is an Equal Opportunity employer. As part of our commitment to equality, diversity and inclusion and promoting equality in careers in science, we hold an Athena SWAN Bronze Award and have an active Equality, Diversity and Inclusion programme of activity. We will consider all applicants without discrimination on grounds of disability, sexual orientation, pregnancy or maternity leave status, race or national or ethnic origin, age, religion or belief, gender identity or re-assignment, marital or civil partnership status, protected veteran status (if applicable) or any other characteristic protected by law. We are open to a range of UK-based flexible working options including part-time or full-time employment as well as flexible hours due to caring or other commitments.

Please include a covering letter and CV with your application.  

Closing date for applications: 28th October 2018, however applications will be considered and reviewed on an on-going basis and therefore the post may be filled before the deadline.