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SEQUENCING (RE)VOLUTION Massimo Delledonne

Delle Donne Seminario

Initially introduced in the mid-2000s, Next Generation Sequencing Technologies (NGS)
emerged as a high-throughput sequencing method, enabling researchers to sequence DNA
and RNA molecules at an unprecedented speed and scale. The transition from Sanger
sequencing to NGS marked a paradigm shift, facilitating genome-wide studies with reduced
cost and time. Over the years, significant improvements in sequencing chemistry, hardware,
and bioinformatics tools have propelled NGS to new heights, enhancing sequencing
accuracy, throughput, and cost-effectiveness. There are now several second and thirdgeneration
sequencers available, with the latter characterized by longer read lengths, singlemolecule
sequencing, and real-time data analysis.
The rise of NGS has democratized genomics, enabling researchers worldwide to explore
diverse applications ranging from basic research to clinical diagnostics and personalized
medicine. NGS has revolutionized genomic research by facilitating whole-genome
sequencing, transcriptomics, epigenetics, metagenomics, and more. Beyond basic research,
NGS has found extensive applications in clinical settings, driving advancements in cancer
genomics, rare disease diagnosis, pharmacogenomics, and infectious disease surveillance.
The ability to sequence entire genomes or targeted gene panels has revolutionized disease
diagnosis, prognosis, and treatment selection, ushering in the era of precision medicine.
However, DNA sequencers vary widely in terms of technology, throughput, accuracy, and
cost, necessitating careful consideration of the application when selecting one. Short-read
sequencers like Illumina's are ideal for high-throughput applications like genome-wide
association studies. Long-read sequencers such as Oxford Nanopore's offer advantages in
structural variation detection and genome assembly. PacBio's platforms excel in resolving
complex genomic regions. Therefore, choosing the appropriate DNA sequencer depends on
the specific requirements of the research or diagnostic task at hand.