Whole-genome sequencing of a sporadic primary immunodeficiency cohort
J. E. D. Thaventhiran, H. Lango Allen, O. S. Burren, W. Rae, D. Greene, E. Staples, Z. Zhang, J. H. R. Farmery, I. Simeoni, J. Maimaris, C. Penkett, J. Stephens, S. V. V. Deevi, A. Sanchis-Juan, N. S. Gleadall, , 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.
bioRxiv · May 7, 2020Immunology