The NCI defines whole-genome sequencing in humans as “a laboratory process that is used to determine nearly all of the approximately 3 billion nucleotides of an individual’s complete DNA sequence, including non-coding sequence.” The focus of this module is on whole-genome sequencing in humans.
Whole-genome sequencing was originally performed for the human genome using Sanger sequencing and took more than a decade and more than $1 billion. Today, we use newer technology referred to as “next-generation sequencing” or “massively parallel sequencing” and also known as “high-throughput sequencing.” These techniques can sequence both DNA and RNA faster and cheaper than traditional Sanger sequencing and, typically, take a few days to perform with costs around $1000. See the “Common Pathology Tests Performed in Oncology” section in the “Pathology Assessment of Tumor Tissue” module for more details on technology.
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