Researchers at the University of Maryland School of Medicine (UMSOM) have published a new study that details the sequencing of 64 full human genomes from individuals around the world to better capture the genetic diversity of the human species.
"We've entered a new era in genomics where whole human genomes can be sequenced with exciting new technologies that provide more substantial and accurate reads of the DNA bases," said study co-author Scott Devine, Ph.D., Associate Professor of Medicine at UMSOM and faculty member of IGS.
"This is allowing researchers to study areas of the genome that previously were not accessible but are relevant to human traits and diseases."
The sequencing has many applications including enabling population-specific studies on genetic predispositions to human diseases as well as the discovery of more complex forms of genetic variation. The new dataset reflects 64 assembled human genomes that represent 25 different human populations from across the world.
The novel dataset was obtained using a combination of advanced sequencing and mapping technologies. As such, it better captures genetic differences from different human populations because each of the genomes was assembled without guidance from the first human genome composite.
"The landmark new research demonstrates a giant step forward in our understanding of the underpinnings of genetically-driven health conditions," said E. Albert Reece, MD, Ph.D., MBA, Executive Vice President for Medical Affairs, UM Baltimore, and the John Z. and Akiko K. Bowers Distinguished Professor and Dean, University of Maryland School of Medicine.
"This advance will hopefully fuel future studies aimed at understanding the impact of human genome variation on human diseases."
The International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence twenty years ago this month. It was called The Human Genome Project.
The study is published on Science.