We analyse large-scale genetic and electronic health record data, including from populations in which parental relatedness (consanguinity) is common, to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases.We are starting new and exciting projects using data from large cohorts of individuals enriched for parental relatedness, including East London Genes and Health (currently N~35,000 British South Asians), Born in Bradford (N=12,000, ~half with Pakistani ancestry), and Deciphering Developmental Disorders (N=10,000 trios, mixed ancestries).
The group will investigate such questions as:
- How do common variants impact the penetrance and expressivity of rare variants, particularly in the context of neurodevelopmental disorders?
- How does the biraderi (clan) structure in Pakistani populations impact the distribution of disease-causing variation?
- Does autozygosity impact complex traits, and if so, through which types of variation?
- How does autozygosity contribute to rare disorders beyond simple monogenic recessive inheritance?
- How can we maximise polygenic prediction of traits in different populations?
- Which genes are under recessive selection, and can we leverage this to inform discovery of disease genes?
- How do current and historical patterns of consanguinity differ between populations?
Elena Arciero is the first postdoc in the group, and Emilie Wigdor has recently joined as a PhD student (June 2019). We are looking forward to welcoming Qinqin Huang as a postdoc in July 2019. Please contact Hilary (hcm at sanger.ac.uk) if you are interested in joining the group.
A key feature of our work is to work in partnership with the individuals and populations we are studying. We uphold strict data security and confidentiality procedures and work closely with cohorts we are studying in community engagement and dissemination of our scientific findings.