Challenges in whole exome sequencing to identify disease-causing variants in human rare diseases

Abstract

Next Generation Sequencing (NGS) Technologies have greatly improved our ability to mine variants out of the entire genome, and the extensive use of Whole Exome Sequencing (WES) has allowed the discovery of variants responsible of disease specially in monogenic diseases. However, finding disease-causing variants requires a primary and secondary analysis where several factors that can affect a successful outcome need to be taken into consideration.