ImmunologybioRxiv
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
J. E. D. Thaventhiran, H. Lango Allen, O. S. Burren…·Kuma
This study uses whole-genome sequencing of a PID cohort to identify genetic mutations and associations, revealing both monogenic and common variant contributions to immune dysfunction.
DOI 10.1038/s41586-020-2265-1