![]() Many people use genetic testing to diagnose conditions or understand their (or their children’s) risk factors for a disease. It’s important for researchers to understand DNA because many diseases are inherited. More than 99% of our human genes are identical among individuals, but that remaining less than 1% has a lot of valuable information. DNA has two strands that are joined together to form a spiral-like shape. It determines traits about you, such as what color your eyes are or your susceptibility to a certain medical condition. Or maybe you’ve been tested for a certain gene for a medical concern.īut how does DNA really work? Here’s a quick primer.ĭNA is inherited material in humans and most other organisms. You may have taken one of those DNA tests to learn about your genetic heritage. So instead of researchers comparing one person’s DNA to one standard reference, researchers can compare the person’s DNA to a reference library containing potentially hundreds of diverse people’s DNA. It will allow us to understand the full diversity of our genes and advance medical research. My colleagues and I are helping scientists make a new form of a genome - the pangenome - or “all genome.” The pangenome has been released in a draft version with about 50 people’s DNA, with the long-term goal of having about 350 people’s DNA in the completed pangenome in the next two or three years. That could be missed when comparing your DNA to the standard reference. Say you have an extra copy of a gene that’s not in the reference. This is especially true for people with ancestry from regions of the world that have high genetic diversity - though it affects everyone. That can make medical research or testing someone’s genes for diseases a challenge for scientists. Even the first “complete” human genome is missing sequences that only exist in some individuals. This has enabled insights into previously unexplored parts of the genome, including providing a map of millions of genetic variations, or stretches of DNA that vary from person to person.īut here’s the problem - the composite human genome, while taken from a diverse group of people from all over the world, does not represent the full diversity of human DNA. Last year, we were part of a large international team that finished the last 8% and completed the first human genome. If a researcher wanted to analyze your DNA, they’d compare you to that single reference genome that’s been in use for years and try to figure out how your DNA is different from that reference. A huge accomplishment involving many scientists, mapping our genes has allowed researchers to better understand inherited diseases and led to many other scientific advancements. Twenty years ago, scientists mapped more than 90% of the entire human genome. ![]()
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