The completion of the Human Genome Project has ushered in a new era of genomics research, opening up a new field of study that explores the relationship between diseases and the genome. Due to the existence of differences in DNA sequence (i.e. single nucleotide polymorphisms or SNPs) between individuals, these variations can impact the causes of diseases and the differences in drug efficacy. The goal of genome medicine is to translate this knowledge into medical technologies and change the current healthcare model, ushering in a new era of personalized medicine.
In 2007, Illumina acquired Solexa and integrated its DNA sequencing platform to launch the Illumina Genome Analyzer. The operating process involves breaking the DNA to be tested into small fragments of 200-500 bp, and attaching adapter sequences to both ends. These fragments are placed on a chip with complementary adapter sequences on the surface, and bridge amplification polymerase chain reaction (PCR) is performed for amplification. Next, specific and removable fluorescent nucleotides and reaction reagents are added to label the different bases, followed by fluorescence tag removal, reagent replacement, and detection to quickly read a large number of sequencing results. Finally, using information software for matching and analysis, the complete DNA sequence can be obtained. In addition, the company introduced a new instrument GAⅡx and paired-end sequencing method in 2009, further enhancing the sequencing read length of the sequencing technology platform to 2×76 bp, producing 20 Gb of sequencing results in only about 8 days with an error rate of approximately 1%.