Mainly engaged in research on the genetic structure of populations, human origins and migrations, complex human genetic diseases, and computational biology; led the International Human Phenome Project. Previously served asEditor-in-Chief or Editorial Board Member of more than ten international journals, including Phenomics. Served as the leader of the Expert Group for Frontier Biotechnology under the National 863 Program during the 12th Five-Year Plan; led the Expert Group for Key Projects in Precision Medicine Research under the 13th Five-Year Plan; and currently leads the Expert Group for Key Projects in Bio-Information Fusion under the 14th Five-Year Plan.

Recipient of the National Natural Science Award (Second Class), the Tan Jiazhen Prize for Achievement in Life Sciences, the Tan Jiazhen Prize for Innovation in Life Sciences, and the International Human Genome Organization (HUGO Award for Distinguished Scientific Achievements, the Ho Leung Ho Lee Foundation Prize for Science and Technology Progress, and other honors.