Whole Exome Sequencing, Target Sequencing

Whole exome sequencing aims at sequencing all genomic regions which represent an exon. By reducing large and complex genomes to the exomes, extensive genetic analyses can be achieved at low costs. About 85% of all genetic diseases are associated with, or caused by, changes in exonic regions. Because not RNA, but genomic DNA is the source material, formalin-fixed paraffin-embedded material or peripheral blood samples can be used for exome sequencing.

Moreover, a specific subset of genomic regions can be sequenced after “target enrichment” strategies, either by PCR amplification of the target sites or by capturing of the sites via biotinylated oligonucleotides. Genes of interest of hundreds of individually barcoded genotypes can hence be analyzed simultaneously.