Whole-exome sequencing data analysis software tools

Targeted resequencing (TR) by massively parallel sequencing, which includes whole-exome sequencing (WES), is a well-established and cost-effective means to analyse specific regions of a genome. Previous studies on genetic diversity (e.g. the 1000 genomes project; Genomes Project et al., 2010) and on human diseases (Ng et al., 2009; Walsh et al., 2010; Thompson et al., 2012) have benefited greatly from this sequencing technology. Moreover, with reducing costs of sequencing, TR technologies are becoming an increasingly attractive and feasible option for smaller research groups and clinical laboratories to undertake sequencing projects. Source text: Li et al., 2014.

Data preprocessing

Data processing

Data analysis


Genome variant analysis

Variant effect analysis


Data visualization