Asignificant proportion of known genetic disease-causing variants lie outside of regions able to be sequenced with high confidence, according to a study published March 2 in Genome Medicine. Nearly 20 percent of many medically important genes may be sequenced inaccurately with current technology. Genomic region, variant type, read depth, and analytical pipeline all affect accuracy of variant calls, the authors say, which highlight the need to improve technical benchmarks in clinical genomics. “We hope by highlighting and scrutinizing the challenging areas of the genome, we can optimize our pipelines for greater consensus and, at the very least, provide transparency regarding our confidence level in every call,” write the authors led by Rachel Goldfeder, a Ph.D., candidate at Stanford University. “The good news is that, in this case, 77 percent of the donor’s genome was reliably sequenced using current methods. The challenge now is to focus our efforts on the other 23 percent—namely, on regions of the genome that remain elusive. Only then can we realize the full potential of precision medicine.” The researchers used the U.S. National Institute of Standards and Technology reference genome, which had been previously sequenced with five different sequencing technologies. These five technologies were previously combined […]