The Human Genome Project began 11 years ago with the ambitious goal of decoding the entire readable codes of human DNA sequences. Since it was one of the greatest achievements of modern science, it encompassed the entire human race and could not be accurate in capturing individual complexity of human genetic variation.
But building on the same project, scientists from the University of Maryland School of Medicine (UMSOM) successfully compiled 64 complete human genomes. This will help to identify and catalog genetic differences between an individual and the reference genome.
The implications and applications of this study are vast. The data will help to better understand the diversity within the human species. This will be useful in population-specific studies on genetic predispositions to human diseases.
Scott Devine, the co-author, explains how this makes areas previously inaccessible now within reach for scientific research. The latest technologies around genetic research can detect and characterize ‘structural variants’ that have major differences in sequence. This includes the insertion of new genetic material, and it is likely to interfere with gene function.
The 64 genomes followed up in the project represent 25 populations around the world. Interestingly, the first composition of the human genome was not used as a guideline for this sequence. This means that the new data are better able to capture genetic differences between 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 around and be inserted into other parts of the genome. About 65 authors are involved in the study.
“The important new research shows a giant step forward in our understanding of the basis of genetically-driven health conditions,” said E. Albert Reece of UM Baltimore. According to him, this paper will form the basis of all future studies aimed at understanding how the genomic difference and variation really affects human diseases. This will be the key to diagnosing the treatment of many disorders in the future.