Investigating the influence of copy number genetic variants on human brain connectivity and cognition.

Elvira Bramon (primary)
Neuroscience in Mental Health Research Department
University College London
Frank Dudbridge (secondary)
Non-communicable Disease Epidemiology
London School of Hygiene and Tropical Medicine

Abstract

Copy number variants (CNVs) are an important source of genetic variability. The phenotypic effects of CNVs are not well understood and are thought to have an important role influencing cognitive functions as well as the risk for a range of common neurodevelopmental diseases. You will investigate the effect of CNVs on brain connectivity and cognition by integrating MRI scans, EEG and cognitive markers into a genetic association study based on microarray and whole genome sequencing data. We can do this in a large family-based sample combined with UK Biobank data.


References

  1. 1 000 Genomes Project Consortium, et al., (2015). A global reference for human genetic variation. Nature. Oct 1; 526 (7571):68-74.
  2. CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium and Psychosis Endophenotypes International Consortium (2017). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics, Jan; 49(1):27-35.
  3. Ranlund S., et al, (2016). Impaired prefrontal synaptic gain in people with psychosis and their relatives during the mismatch negativity. Human Brain Mapping, 37(1); 351-65.
  4. Friston K., et al., (2015). Empirical Bayes for Dynamic Causal Modelling (DCM): A Group Inversion Scheme. Frontiers in Systems Neuroscience, 27; 9:164.
  5. Davis O et al. (2014). The correlation between reading and mathematics ability at age twelve has a substantial genetic component. Nature Communications, 5, 4204.

BBSRC Area
Genes, development and STEM* approaches to biology
Area of Biology
GeneticsNeurobiology
Techniques & Approaches
BioinformaticsGeneticsImage ProcessingMathematics / StatisticsSimulation / Modelling