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VCOM research team unlocks the final portion of the human genome

The human genome was declared to be finished in April of 2003, but that did not mean research was complete. The bioinformatics and genetics group at the Edward Via College of Osteopathic Medicine (VCOM) has discovered how to crack the last one percent of the human genome, which is often called “junk DNA” or “dark matter.”

Photo credit: Jonathan Bailey, NHGRI

The team of researchers found when opened, the human genome contains previously undiscovered genes and DNA sequences that may play a role in cancer and aging. The findings are presented in a manuscript appearing in Nature Scientific Reports entitled, “Genomic Leftovers: Identifying Novel Microsatellites, Over-represented Motifs and Functional Elements in the Human Genome.”
The study was led by Harold "Skip" Garner, PhD, Executive Director of the Primary Care Research Network and the Center for Bioinformatics and Genetics of VCOM.  Collaborating on the project were scientists from Children’s Hospital of Philadelphia, Harvard University and Virginia Tech.
“There are important things in the human genome that go unstudied because they are technologically hard to handle,” said Garner, “but we took a very risky and unconventional experimental and computational approach, which payed off.”
According to Garner, the approach used in the study can be used to discover new disease-causing genes that, until now have managed to stay hidden. In addition, it could be used to help “finish” not only the human genome, but other complex genomes, such as those in grain plants and amphibians.
In addition to new genes, the team found there were certain DNA sequences repeated frequently in the genome and the sequences may be in the middle and the ends of chromosomes.  The new sequences may play a role in the shortening of chromosomes as humans’ age, making the population more susceptible to cancer and neurological diseases.
Scientific American, the oldest American scientific journal published an OpEd piece by Dr. Skip Garner, to discuss the broader implications of this research, entitled “Why We Should Finish the Human Genome.”
"Garner's study is very interesting because it enables us to peer into what might be called the ‘dark matter’ of the genome,” said Jonathan D. Wren, PhD, Adjunct Assistant Professor at the University of Oklahoma Health Sciences Center, “Our ability to analyze the genome depends on our ability to "see" it, and these regions have traditionally been almost invisible.  Virtually every study on the genome uses the reference genome, which is devoid of these regions."
Next for the team is to further piece together the missing parts of the human genome and search for the remaining 100 or 200 genes the human genome is thought to contain. Next the team plans use microsatellite sequences to create a new genetic diagnostic tests for things like cancer-risk, cancer-treatment selection, and the risk for developing neurological diseases, such as Autism.