The human genome project began 11 years ago, with the ambitious goal of decoding the entire human DNA by sequencing readable codes. Being one of the greatest achievements of modern science, it encompassed the entire human race and could not be precise 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 also be useful in population-specific studies on genetic predispositions to human diseases.
Scott Devine, co-author, explains how this makes previously inaccessible areas now within 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 from around the world. Interestingly, the first human genomic composite 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 found the presence of “moving elements”. These were pieces of DNA that could move and be inserted into other areas of the genome. About 65 authors are involved in the study.
“The new research benchmark demonstrates a huge step forward in our understanding of the basics of genetically determined 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 genomic difference and variation actually influences human diseases. This will be the key to diagnosing the treatment of many disorders in the future.