An overview of the human genome

Abstract

I was invited to write a brief introductory overview of the human genome and human genomics. Considering that this subject matter occupies whole books, the most I could aspire was to produce a very incomplete "CliffsNote view" of the human genome. Moreover, the chapters that follow will provide a lot of useful genomic information and I wanted to keep out of their turf. I have rather opted to focus in on only three interrelated genomic topics: (A) a bird's-eye view of selected aspects of the structure and evolution of the human genome; (B) consequences of the abundance of retroposons, retrotransposons and endogenous retroviruses, which make up 41% of the human genome. This subject also has some topical interest, considering that humankind is right now being held ransom by an RNA virus, SARS-CoV-2 that causes the serious disease COVID-19; (C) genomic sequencing as a clinical tool for the accurate prediction of disease risk in Precision Medicine.