Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Publication: Nature

James E. D. Thaventhiran, Hana Lango Allen, Kenneth G. C. Smith 

06 May 2020


Summary:

Cambridge researchers sequenced the entire genetic code of 974 people with PID. The team were able to identify variations in genes already known to cause PID. To help identify genetic causes for the remaining participants and other patients with PID, the team used a statistical program known as BeviMed. BeviMed can be used to predict genes that may cause PID, by comparing the genomes of cases and controls. Using this technique, the team were able to identify new genes that cause PID. Full press release here

View publication

© Copyright - NIHR Cambridge Biomedical Research Centre 2025