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