Next Generation Sequencing (NGS) has revolutionized biological research
Next Generation Sequencing (NGS) has revolutionized biological research by allowing for the simultaneous sequencing of millions of DNA fragments. This high-throughput capability enables the rapid analysis of entire genomes or targeted exomes, providing unprecedented insights into the genetic architecture of disease. It has moved from research labs into routine clinical diagnostics.
The technology relies on sophisticated bioinformatics pipelines to align reads and identify variants against a reference genome. In clinical oncology, NGS is used to detect somatic mutations that can be targeted with specific therapies, while in pediatrics, it helps solve "diagnostic odysseys" by pinpointing rare hereditary mutations.
The process involves library preparation, clonal amplification, and sequencing-by-synthesis, producing vast amounts of data that require significant computational power to interpret. The ability to detect single nucleotide polymorphisms, insertions, deletions, and structural variants in one assay makes it more efficient than traditional Sanger sequencing. This granularity allows for the detection of low-frequency…