Computational Postdoctoral Fellow in Medical Genomics

Contract Length: 3 years

We are seeking a highly motivated and creative postdoctoral fellow to join the Martin group at the Wellcome Sanger Institute. The group investigates the genetic basis of rare and common diseases and complex traits, primarily in populations with European and South Asian ancestry. We currently have projects in the following areas:

• The role of both rare and common variants in rare developmental disorders, using data from the Deciphering Developmental Disorders study (N=13,000 exome-sequenced patients) and the Genomics England 100,000 Genomes project (N~33,000 whole-genome sequenced rare disease patients), in collaboration with GeneDx (>60,000 exome sequenced patients) and with Matt Hurles’ group. We have a particular focus on the contribution of recessive variants across diverse populations (building on previous work), and on the interplay of rare and common variants. We are also beginning new projects investigating the genetic contribution to sex differences in autism and autistic traits, and on the impact of endogamy versus consanguinity on rare disease risk.
• The genetics of cognitive and behavioral traits, using sequence and genotype data from UK Biobank and from two large UK birth cohorts, the Avon Longitudinal Study of Parents and Children and the Millenium Cohort Study (N~20,000), in collaboration with with Matt Hurles’ group. This work is building on recent findings about the genetic overlap between rare neurodevelopmental disorders and cognitive/mental health traits in the general population (e.g. Niemi et al., Nature, 2018; Gardner et al., Nature, 2022).
• The genetic basis of complex diseases and traits in British South Asian populations, using data from the Genes & Health project (N~50,000 British Pakistani and Bangladeshi individuals with linked electronic health records). An industry consortium has recently funded exome-sequencing of the cohort to complement the existing genotype chip data. We are investigating the contribution of rare and common variants to complex disease risk, as well as the role of autozygosity.

You will be able to help develop a project within these broad areas that suits your interests and skills. Prospective candidates are welcome to contact Hilary Martin with informal queries before deciding whether to apply.

Essential Skills

Technical Skills:

• PhD in a relevant area (genetics, genomics, bioinformatics) 
• Good publishing record
• Experience analysing large-scale human genetic data 
• Full working proficiency in Python or Perl, R, and Unix/Linux 
• Knowledge of the literature on rare and/or common disease genetics 
• Knowledge of statistical methods appropriate for large-scale genetic research 
• Demonstrates inclusivity and respect for all 

 Competencies and Behaviours:

• Creativity and original scientific ideas 
• Enthusiasm and commitment 
• Attention to detail 
• Strong problem-solving skills 
• Ability to communicate ideas and results effectively both verbally and in writing 
• Ability to prioritise, work independently and organise own workload 
• Ability to collaborate effectively with and independently supervise less experienced scientists 

Other information

Application Process:

Please apply with your CV and a Cover Letter outlining how you meet the criteria set out above and in the job description.

Applications will be considered on an ongoing basis and the role will close when a successful appointment has been made.