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Comment Re:Computational Molecular Phenotyping (Score 3, Informative) 42

There seems to be great confusion over this topic, so I am going to chime in with a my attempt to clarify.

Biomarkers in a nutshell: Let's say we believe that there are 6 proteins of interest to some disease. If we find that you have higher than normal levels of proteins A,B, and C and have lower than normal levels of proteins X, Y, and Z then you have a good PROBABILITY of having the disease so we should follow up with imaging or other diagnostic studies. These 6 proteins would be called biomarkers.

Finding proteins that are suitable for use as biomarkers out of the entire human genome is where the challenge is. One of the most popular approaches these days is to use "Gene Chips" which can measure relative expression of virtually the entire human genome in one shot. One can then use a variety of classic AI algorithms against a training data set (patients who have the disease versus those who don't, or good vs poor outcome, etc) to try to look for combinations of genes that are predictive (biomarkers) of the disease or outcome. It's a very difficult problem to say the least.

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