Genetic analysis reveals new causes of Primary Immunodeficiency (PID)

A UK-wide research collaboration through the National Institute for Health Research (NIHR) BioResource for Rare Diseases has combined whole genome sequencing (WGS) with a statistical program called BeviMed to predict the existence of disease-causing changes in the DNA of people with Primary Immunodeficiency (PID).  

Thaventhiran JE, Allen HL, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JH, Simeoni I, Rivers E, Maimaris J. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020 May 6:1-6.

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