The AP is solely responsible for all content. The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. “We’re in it for the long game,” Paten said. Scientists are also hoping to work more with international partners, including those focusing on Indigenous populations. The team is in the process of adding to the collection of reference genomes, with the goal of having sequences from 350 people by the middle of next year. Our mission is to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases. The consortium leading the research is part of the Human Genome Reference Program, which is funded by an arm of the U.S. About Blueprint Genetics We are changing diagnostics by providing accessible and actionable genetic knowledge in all medical specialties. Until now, “we really have only been able to scratch the surface of understanding the genetics that underlies disease,” she said. University of Minnesota plant genetics expert Candice Hirsch, who wasn’t involved in the research but has closely followed the effort, said she expects many discoveries to flow from it. Eichler is paid by the Howard Hughes Medical Institute, which also supports The Associated Press’s health and science department. “Now that we can actually sequence that gene in its entirety and we can understand the variation in that gene, we can start to go back to unexplained cases of patients with coronary heart disease” and look at them in light of the new knowledge, he said. Study author Evan Eichler of the University of Washington said researchers will also learn more about genes already linked to problems, such as one tied to cardiovascular disease in African Americans. If someone has a variation in a certain gene, it could be compared to the rainbow of references.
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