A lab is developing more accurate and powerful liquid biopsy technologies that take advantage of signals from RNA 'dark matter,' an understudied area of the genome.
Cancer is most treatable in its early stages, so finding innovative and non-invasive methods to diagnose cancer early on is crucial for fighting the disease. Liquid biopsies, which require just a simple blood draw, are an emerging technology for non-invasively testing for cancer using DNA or RNA sequencing of a patient's blood.
Most of the three billion base pairs of DNA that make up the human genome are transcribed into RNA, and all of the RNA is collectively known as the transcriptome. The most commonly recognized function of RNA is to code for proteins in the body, but 75% of the human genome generates noncoding RNA that does not code for proteins.
"If you look at these different cancers, each has its own characteristic cell-free RNA profile, but a lot of these RNAs are coming from the millions of repeat elements that are found throughout the genome," Kim said."What we found was that when we trained machine learning models for cancer classification, the models perform better when you introduce these repetitive cell-free RNAs as additional features.
Kim's goal is to develop an RNA liquid biopsy test for multi-cancer early detection, using the rich information from repetitive RNAs to identify and diagnose disease with high sensitivity and specificity. Kim hopes his platform will not only diagnose cancer at the earliest stages but also help guide individualized, precise treatment strategies when the cancer is more treatable.
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