Illuminasekvensointi

Illuminasekvensointi, also known as Illumina sequencing or short-read sequencing, is a widely used high-throughput DNA sequencing technology. Developed by Illumina, Inc., it is a type of next-generation sequencing (NGS) that allows for the rapid and cost-effective determination of nucleotide sequences. The process typically involves fragmenting the DNA into smaller pieces, attaching adapters to the ends of these fragments, and then amplifying them on a solid surface called a flow cell.

During the sequencing-by-synthesis step, fluorescently labeled nucleotides are added to the flow cell. As each nucleotide is incorporated into a growing DNA strand, a signal is detected and recorded by a specialized camera. Each of the four nucleotide bases (A, T, C, G) is labeled with a unique fluorescent dye and has a corresponding emission spectrum. By reading the color of the fluorescence at each cluster of DNA fragments, the sequence of bases can be determined. This process is repeated cycle after cycle, building up a high volume of short sequence reads, typically ranging from 50 to 300 base pairs.

The massive amount of data generated by Illumina sequencing can then be computationally assembled to reconstruct the original genome or analyze specific regions of interest. This technology has revolutionized genomics research, enabling applications such as whole-genome sequencing, exome sequencing, transcriptome analysis, and epigenetics studies. Its accuracy, throughput, and relatively low cost have made it a cornerstone of modern biological research and clinical diagnostics.