Exome and genome sequencing for inborn errors of immunity
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine,
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery
of novel disease-causing genes and the genetic diagnosis of patients with monogenic
inborn errors of immunity. Whole-exome sequencing (WES) is presently the most cost-
effective approach for research and diagnostics, although whole-genome sequencing offers
several advantages. The scientific or diagnostic challenge consists in selecting 1 or 2 …
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery
of novel disease-causing genes and the genetic diagnosis of patients with monogenic
inborn errors of immunity. Whole-exome sequencing (WES) is presently the most cost-
effective approach for research and diagnostics, although whole-genome sequencing offers
several advantages. The scientific or diagnostic challenge consists in selecting 1 or 2 …