Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Nature
Volume 583 Issue 7814, 2 July 2020
http://www.nature.com/nature/current_issue.html

 

Article | 06 May 2020
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.
James E. D. Thaventhiran, Hana Lango Allen[…] & Kenneth G. C. Smith