Whole-genome sequencing software tools

Since 2005, whole-genome sequencing platforms have become widely available, reducing the cost of DNA sequencing by four orders of magnitude relative to Sanger sequencing (DNA sequencing costs; Metzker, 2010; Mardis, 2011). NGS technologies are being increasingly applied to targeted sequencing and analysis of whole exomes to determine cost effectively nearly all of the coding variation present in an individual genome (Bamshad et al., 2011; Kiezun et al., 2012; Rabbani et al., 2012). Recent studies demonstrate successes in applying whole-genome or whole-exome sequencing to disease gene discovery and clinical diagnosis of cancers (Braggio et al., 2013; Mwenifumbo and Marra, 2013; Shyr and Liu, 2013; Simon and Roychowdhury, 2013; Ulahannan et al., 2013) and complex neurological diseases (Bras et al., 2012; Foo et al., 2012), but they also highlight major challenges in data interpretation.
Curator: Catherine Breton