Last updated:
ID:
49978
Start date:
10 October 2019
Project status:
Current
Principal investigator:
Dr Tomas Fitzgerald
Lead institution:
European Bioinformatics Institute (EBI), Great Britain

Copy number variation (CNV) is an important source of genetic differences between individuals and can give raise to observable traits. Certain CNVs are known to cause extreme traits in human and can be the direct cause of a number of severe illnesses. In this project we aim to make use of next generation sequencing datasets across a large UK cohort, to create detailed CNV maps, and to perform robust association testing of copy number variable regions against human phenotypic measurements with a particular focus on brain structure and function.

Related publications

Author(s)
Panagiotis I Sergouniotis, Adam Diakite, Kumar Gaurav, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Tasanee Braithwaite, Roxana…
Journal
Bioinformatics
Author(s)
Thomas H Julian, Tomas Fitzgerald, Biobank Eye and Vision Consortium, Ewan Birney, Panagiotis I. Sergouniotis
Journal
Pigment Cell & Melanoma Research

All publications