NGS PLATFORM - ITS CONTRIBUTION TO CLINICAL PRACTICE
In recent years, Next Generation Sequencing (NGS) technology
has been actively introduced into clinical practice,
playing an essential role in understanding
the genetics of many diseases, such as cancer.
NGS platforms include 3 main categories: 1) targeted gene panels,
2) sequencing of all exons, ie the regions of the genome encoding proteins
(Whole Exome Sequencing-WES) and 3) sequencing of
the entire genome (Whole W Genome Sequencing) ).
With the use of NGS it is possible to detect both mutations
in genes associated with hereditary cancer and the analysis of
the molecular profile of the tumor (somatic mutations).
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