The 'sequence everything' approach and personalized clinical decision challenges

摘要

The concept of an integrative approach for a range of different omics data is not new, but in recent years it has resurfaced and become reinvigorated by. technological advances that have made possible the 'sequencing of everything' (i.e., the characterization of informational macromolecules at the genomic, transcriptomic and epigenomic levels) using next-generation sequencing (NGS) technologies . NGS technologies have permitted genomic DNA sequencing (i.e., whole-genome sequencing [WGS] and whole-exome sequencing [WES]), epigenomic sequencing (i.e., bisulfite sequencing for DNA metirylation, chromatin immunoprecipitation sequencing [ChlP-Seq] for histone modification) and RNA sequencing (RNA-Seq) at an unprecedented level. The first WGS studies of healthy individuals and cancer patients were reported in 2008 and these successful applications led to the initiation of large-scale international projects such as the 1000 Genomes Project and the International Cancer Genome Consortium , which were designed to sequence thousands of normal and cancer genomes.