Brain Matters in Business by Jonathan Jordan

Another milestone was reached last year, when the final eight percent of the genome - mainly tightly coiled DNA that doesn't code for protein and repetitive DNA regions - was finally sequenced.ĭespite this progress, the reference genome remained imperfect, especially with respect to the critical 0.2 to one percent of DNA representing diversity. 'With a greater breadth and depth of genetic data at their disposal, and greater quality of genome assemblies, researchers can refine their understanding of the link between genes and disease traits, and accelerate clinical research.'Ĭompleted in 2003, the first draft of the human genome was relatively imprecise, but it became sharper over the years thanks to filled-in gaps, corrected errors, and advancing sequencing technology.

'This complex genomic collection represents significantly more accurate human genetic diversity than has ever been captured before,' he says. Jarvis, one of the primary investigators. While it's still a work in progress, the pangenome is public and can be used by scientists around the world as a new standard human genome reference, says The Rockefeller University's Erich D. Layered upon each other, these sequences revealed nearly 120 million DNA base pairs that were previously unseen. As they recently published in Nature, they've assembled genomic sequences of 47 people from around the world into a so-called pangenome in which more than 99 percent of each sequence is rendered with high accuracy. Now scientists with the Human Pangenome Reference Consortium have made groundbreaking progress in characterizing the fraction of human DNA that varies between individuals.

Many genetic variants found in non-European populations, for instance, aren't represented in the reference genome at all.įor years, researchers have called for a resource more inclusive of human diversity with which to diagnose diseases and guide medical treatments.

As a result, it can tell us little about the 0.2 to one percent of genetic sequence that makes each of the seven billion people on this planet different from each other, creating an inherent bias in biomedical data believed to be responsible for some of the health disparities affecting patients today. One of its biggest problems is that about 70 percent of its data came from a single man of predominantly African-European background whose DNA was sequenced during the Human Genome Project, the first effort to capture all of a person's DNA.

Brain Matters in Business by Jonathan Jordan