Diagnostic clinical genome and exome sequencing.

By Leslie G. Biesecker, R. Green. New England Journal of Medicine, 2014

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Piercing the dark matter: bioinformatics of long-range sequencing and mapping (2018, background): “…one pragmatic cost-saving approach is the use of capture-based technologies to focus the analysis on the most relevant regions first 126 , analogous to how exome capture or targeted panels with second-generation sequencing are commonly used today 131 . make these analyses faster and more practical.”
Oncotator: cancer variant annotation tool (2015, background): “…greatly empowers researchers to distinguish driver mutations from passengers (Imielinski et al., 2014), link specific variants to patient phenotypes (Van Allen et al., 2013; Biesecker and Green, 2014), and uncover unexpected oncogenic mechanisms shared across diseases (Lawrence et al., 2013).”