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Beginning of the Journey to the End

The purpose of this blog has many uses.  It allows me to create content exploring genome biology in more depth than what can be achieved in a mere 140 characters.  But more ambitiously, I will be embarking on a journey of self-discovery, of the molecular and structural kind.  I plan to acquire my own genome’s data at high-density read depth.  I expect to catalog over 1,000,000 variations from my genome when compared to the norm.   Of these variations, I expect about 1000 will be in the coding sequence of my genes.  About 7% of these will be obviously deleterious to gene function.  Yet, because we are diploids organisms with two copies of every gene, many of these “bad” genes will be backed up by a good copy.  As a result, I will know what is my carrier status for bad alleles. Intriguingly, I will be uncovering which important genes (or hopefully not so important genes) have had two hits that render their phenotypic consequence as defective.