General schema for targeted exome capture, whole genome sequencing, and transcriptome sequencing. (a) In exome capture, a random library of genomic fragments, each containing platform-specific adapters on each end, is combined with a set of probes that define the human exome. Following hybridization, the probe:genomic library fragment hybrids are captured using magnetic beads and isolated from solution by the application of a magnet, or by solid phase capture. Denaturing conditions are used to elute the captured genomic library fragment population from the hybrids, and prepared for sequencing. (b) In whole genome sequencing, the same random fragment library is constructed as in (a), but the resulting fragments are sequenced directly without a capture step. (c) In transcriptome sequencing, the RNA is converted to cDNA, the resulting cDNAs are fragmented, and the library adapters are ligated to the resulting fragments, followed by sequencing. Panel (a) reproduced with permission from .
Mardis Genome Biology 2010 11:211 doi:10.1186/gb-2010-11-5-211