Next generation sequencing (Next Generation Sequencing) refers to modern DNA sequencing technologies that parallelize the whole genome sequencing process. Over the past decade, Next Generation Sequencing has revolutionized genetic research and enabled breakthrough discoveries across multiple fields of science.
Emergence of High-throughput Sequencing
The field of genomics was transformed with the introduction of Sanger sequencing in 1977 which allowed researchers to read DNA strands one base pair at a time. However, Sanger sequencing was low throughput and decoding an entire human genome would take over a decade. The desire for more efficient sequencing led to the development of Next Generation Sequencing technologies around 2005. These modern techniques allow scientists to sequence millions of DNA fragments simultaneously using arrays or sequencing by synthesis approaches. This massively parallelization of the sequencing process has made Next Generation Sequencing exponentially faster and cheaper compared to previous methods.
Advantages of Next Generation Sequencing Technologies
Next Generation Sequencing platforms have several advantages over traditional Sanger sequencing.
- Throughput: Next Generation Sequencing machines can sequence gigabases of DNA in a single run and the sequencing output is measured in terabases. This high throughput enables sequencing of multiple genomes or transcriptomes in a single experiment.
- Cost: The declining costs of Next Generation Sequencing have made large-scale sequencing projects affordable. The US$1,000 human genome is nearing reality due to efficiency gains of Next Generation Sequencing.
- Accuracy: While early Next Generation Sequencing machines had lower accuracy than Sanger, latest platforms match or exceed Sanger quality with read lengths over 150bp. Continuous method improvements enhance accuracy.
- Flexibility: Next Generation Sequencing can target entire genomes, transcriptomes or focus on specific gene panels based on the research question. Targeted sequencing allows deeper coverage.
Applications Transforming Sciences
The unprecedented data output from Next Generation Sequencing opened up new frontiers in genomics and affiliated disciplines. Let us examine how this technology is revolutionizing scientific fields:
Personalized Medicine
Next Generation Sequencing vastly increased our ability to analyze human genetic variation and link it to health factors. Large-scale sequencing projects have uncovered genetic risk factors for diseases like cancer. Clinicians can now diagnose rare disorders by finding causal variants. Pharmacogenomics utilizes Next Generation Sequencing to predict drug responses, leading to precision therapies. More disease drivers are being identified, enabling development of targeted treatments.
Evolution and Anthropology
Population-scale human genome sequencing has transformed our understanding of ancient migrations and relatedness. Paleogenomics uses Next Generation Sequencing to decode Neanderthal and other archaic hominin genomes, shedding light on human evolutionary history. Precise dating of genetic divergences between species is improving phylogenetic trees. Conservation efforts for endangered species utilize genomic analysis.
Microbial Genomics
Pathogen genomes sequenced via Next Generation Sequencing helped confront public health challenges like Ebola, Zika and SARS-CoV-2. Environmental microbiology utilizes metagenomic approaches to study microbial communities. Industrial biotechnology leverages genetic engineering informed by microbial genomics. Our global understanding of microbial diversity and interactions is being revolutionized.
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