A study describes the sequence of 64 full human genomes

Researchers at the University of Maryland School of Medicine (UMSOM) co-authored a study, published today in the journal Science, that details the sequencing of 64 full human genomes. This reference data includes individuals from around the world and captures the genetic diversity of the human race better.

Among other claims, the work will allow specific population studies on genetic predispositions to human diseases as well as the discovery of more complex forms of genetic variation.

Twenty years ago this month, the International Consortium for Human Genome Classification announced the first version of the human genome reference series.

The Human Genome Project, as it was called, required 11 years of work and involved more than 1000 scientists from 40 countries. This reference, however, did not represent a single individual, but instead was a mixture of people who could not properly grasp the complexity of human genetic change.

Building on this, scientists have undertaken several sequencing projects over the past 20 years to identify and catalog genetic differences between an individual and the reference genome. These differences usually focused on small single changes and missed larger genetic changes.

Conventional technologies are now beginning to detect and identify larger differences – known as structural changes – such as the introduction of new genetic material. Structural changes are less likely than genetic differences to inhibit gene function.

The new discovery introduced Science announced a new, much more complete set of reference information obtained using a combination of advanced tracking and mapping technologies.

The new reference database features 64 collected human genomes, representing 25 different humans from around the globe. Importantly, each of the genomes was collected without guidance from the first human genome material. As a result, the new database captures genetic differences from different human groups.

We have ushered in a new era in genomics where whole human genomes can be sequenced with exciting new technologies that provide more substantial and accurate readings of the DNA basics. This allows researchers to study areas of the genome that were previously inaccessible but relevant to human traits and diseases. “

Scott Devine, PhD, Research Co-Author and Associate Professor, Medicine, University of Maryland School of Medicine

Scott Devine is also an Faculty Member at IGS. The Institute of Genome Science (IGS) Genome Resource Center was one of three sequencing centers, along with Jackson Labs and the University of Washington, that generated the data using new series technology recently developed by Pacific Biosciences. The GRC was one of only five early access centers asked to test the new platform.

Dr. Devine helped direct the ordering efforts for this study and also led the subgroup of authors to detect the presence of “mobile elements” (i.e., pieces of DNA that can move around and receive into other areas of the genome).

Other members of the Institute for Genome Sciences (IGS) at the University of Maryland School of Medicine are among the 65 co-authors. Luke Tallon, PhD, Scientific Director of the Genomic Resources Center, worked with Dr. Devine to generate one of the first human genome sequences on the Pacific Bioscences platform that was added to this study. Nelson Chuang, a graduate student in Dr. Devine’s lab also contributed to the project.

“The famous new research marks a major step forward in our understanding of the fundamentals of genetic health conditions,” said E. Albert Reece, MD, PhD, MBA, Vice President of Medical Affairs, UM Baltimore, and the John Z. and Akiko K. Bowers Distinguished Professor and Dean, University of Maryland School of Medicine. ”This advancement will hopefully fuel future studies aimed at understanding the impact of human genome differentiation on human diseases. “