Widely used reference genome is missing big chunk of data on people of African descent

In a new study, researchers recently sequenced genetic data from over 900 people of African descent to construct a more complete collection of DNA data that is missing from the current reference genome, a baseline reference used to study genetic variety among groups of people. Having a more complete reference source will make it easier to determine why certain people or groups may be more or less vulnerable to common health conditions such as heart disease, cancer, and diabetes, they say.

"These results underscore the importance of research on populations from diverse backgrounds and ancestries to create a comprehensive and inclusive picture of the human genome," said James P. Kiley, Ph.D., director of the Division of Lung Diseases at the National Heart, Lung, and Blood Institute (NHLBI), which supported the study. "A more complete picture of the human genome may lead to a better understanding of variations in disease risk across different populations."

The study, published in Nature Genetics, was partly funded by NHLBI.