When doctors can’t find a diagnosis for a patient’s disease, they turn to genetic detectives. Equipped with genomic sequencing technologies available for less than 10 years, these sleuths now routinely search through a patient’s DNA looking for mutations responsible for mysterious diseases.
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A big reason why most investigations turn up empty-handed is the “dark genome.” Only 2 percent of the human genome is well understood by scientists. This small fraction contains the 20,000 genes that encode instructions for making the cell’s proteins. The remaining 98 percent—the “dark genome”—is largely a mystery…
As a consequence, sequencing data from the entire genome “is currently considered almost uninterpretable,” says David Goldstein, PhD, the John E. Borne Professor of Medical and Surgical Research and director of the Institute for Genomic Medicine at Columbia University Medical Center…
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To help locate pathogenic mutations in the vast non-coding genome, Dr. Goldstein and his colleagues Ayal Gussow and Andrew Allen have developed a new technique called Orion. Orion is designed to flag regions of the non-coding genome that are likely to contain disease-causing genetic changes by identifying parts of the genome that are under selection in the human population.
“We anticipate that researchers will immediately start using Orion to help them find pathogenic mutations in patients in which previous sequencing efforts were negative,” says Dr. Goldstein. Details about the method were published…in PLoS One.
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