The Human Genome Project began 11 years ago with the ambitious goal of decoding the complete readable codes of human DNA. Being one of the greatest achievements of modern science, it encompassed all of humanity and could not be accurate in capturing individual complexities of human genetic variation.
But building on the same project, scientists at the University of Maryland School of Medicine (UMSOM) have successfully sequenced 64 whole human genomes. This will help identify and catalog genetic differences between an individual and the reference genome.
The implications and applications of this study are enormous. The data will help to better understand diversity within the human species. It will also be useful in population-specific studies of genetic predisposition to human disease.
Scott Devine, the co-author, explains how previously unreachable areas are now coming within reach for scientific exploration. The latest technologies in genetic research can detect and characterize “structural variants” that have large sequence differences. This involves the introduction of new genetic material and is more likely to interfere with gene function.
The 64 genomes sequenced in the project represent 25 populations around the world. Interestingly, the first human genome composite was not used as a guide for this sequencing. This means that the new data is better able to capture genetic differences of different human populations.
Devine is also responsible for a study that discovered the presence of “mobile elements”. These were pieces of DNA that could move and be inserted into other parts of the genome. About 65 authors are involved in the study.
“The groundbreaking new research represents a huge step forward in our understanding of the underpinnings of genetically determined health conditions,” said E. Albert Reece of UM Baltimore. According to him, this article will form the basis of all future studies aimed at understanding how genomic difference and variation actually affect human disease. This will be the key to diagnosing many conditions in the future.