BGI has analyzed the world’s largest set of genome data from pregnant women, a total 141,431 expectant mothers from across China, in a groundbreaking study published today in the leading academic journal Cell.

The genomic analyses from non-invasive prenatal testing (NIPT) revealed new genetic associations, patterns of viral infections, and history in Chinese populations. The study is the largest genomic study of the Chinese population to date and represents the first phase of BGI’s Million Chinese Genome Project.

“For the first time, we proved that NIPT data can be used in genome-wide association studies to understand the genetic architecture of complex traits and disease,” said Siyang Liu, senior research scientist in BGI and first author of the study.  “This brings up a new and promising model of investigating genetic mechanisms underlying traits related to maternal and child’s health.”

The research has revealed novel genetic associations between genes and pregnancy-related traits, including the birth of twins and the woman’s age at pregnancy, one of the well-known measurements of fertility. The analysis also allowed researchers to reconstruct the recent movement and intermarriage of different ethnic groups in China, and promises to help identify genes that make people susceptible to viral infection.