Evolutionary analysis of the genome load of loss-of-function variants and their contribution to immunodeficiencies 

Valles Ibáñez, Guillem de (Date of defense: 2016-11-16)

Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential truncation of ...