(Cyto)pathology and sequencing: Next (or last) generation?

摘要

Next-generation DNA sequencing is revolutionizing cancer genomics. Whole genome resequencing of tumors is within our reach. High-quality reference genome sequences provide us prospect to study genetic variation on an unprecedented scale. Genes, genomic regions, and whole genomes can be resequenced, aligned to appropriate references, and genetic peculiarity between individuals can be detected. What once cost US$3 billion and took 13 years to complete is accomplished today with 10X greater resolution in 1/500th the time for 1/ 10,000th the cost.