The Human Genome Project began 11 years ago with the ambitious goal of decoding the entire human DNA sequencing reading code. Being one of the greatest achievements of modern science, it encompassed the entire human race and could not be accurate in capturing the individual complexities of human genetic variation.
But based on the same project, scientists at the University of Maryland School of Medicine (UMSOM) have successfully sequenced 64 complete human genomes. This will help identify and catalog the genetic differences between an individual and the reference genome.
The implications and applications of this study are immense. The data will help to better understand the diversity of the human species. It will be useful in population-specific studies on genetic predispositions to human diseases as well.
Scott Devine, the co-author, explains how this makes previously inaccessible areas now within the reach of scientific research. The latest technologies around genetic research can detect and characterize “structural variants” that have large differences in sequence. This includes the insertion of new genetic material and is more likely to interfere with gene function.
The 64 genomes sequenced in the project represent 25 populations worldwide. Interestingly, the first human genome compound was not used as a guide for this sequencing. This means that new data are better able to capture genetic differences from different human populations.
Devine is also responsible for a study that discovered the presence of “moving elements.” These were pieces of DNA that could be moved and inserted into other areas of the genome. Around 65 authors take part.
“The new flagship research demonstrates a major step forward in our understanding of the fundamentals of genetically driven health conditions,” said E. Albert Reece of UM Baltimore. According to him, this paper will be the basis of all future studies aimed at understanding how genomic difference and variation really affect human diseases. This will be key to diagnosing the treatment of many disorders in the future.