Prenatal DNA Tests Yield Population-Level Insights

Scientists in China have used prenatal testing samples to carry out the largest genetic study in China to date.

AsianScientist (Oct. 12, 2018) – Researchers have performed the largest-scale genetic analysis of Chinese people to date, using data from non-invasive prenatal testing (NIPT) to assemble a representative sample of the whole population. Their findings are published in Cell.

Even though the cost of sequencing entire human genomes has come down over the years, the cost of population-level studies is still exorbitantly high. Although studies of tens of thousands of individuals have been carried out, collecting genomic data from hundreds of thousands or millions of people has not been possible.

Meanwhile, NIPT—a test that sequences small amounts of a mother’s cell-free DNA—has been growing in popularity. It has been administered to approximately six to seven million Chinese women and an estimated ten million women worldwide.

In this study, researchers led by Dr. Xu Xun of BGI-Shenzhen, a genome sequencing center based in China, obtained a representative sample of the Chinese population based on NIPT data. The proof-of-concept analysis, still underway, could reveal new information about migration patterns, traits under selective pressure and disease risk in Chinese populations.

“Although NIPT is a method of low-pass sequencing, capturing approximately 6-10 percent of the whole genome randomly, there’s still a chance that using this data with a large population size will provide us with a much broader vision of what the Chinese genetic population looks like. NIPT is such a unique opportunity for us to access a large population size,” said Xu.

The current study included 141,431 participants from 31 of the 34 administrative provinces of China and comprised 36 of China’s 55 ethnic minority groups. Their proof-of-concept analyses allowed them to identify patterns in the evolutionary history of China’s different ethnic groups to pinpoint novel genetic loci linked to phenotypes like height and body mass index. The researchers were also able to identify viral DNA distributions specific to the Chinese genome.

However, they noted that there are some limitations to the data: it does not reveal much information about the individual and there is about 20 percent of the genome where there is insufficient data to do comprehensive analyses.

“For me, this is a very exciting new model for biology research,” said Xu. “It provides powerful tools and a platform for future studies.”

The article can be found at: Liu et al. (2018) Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History.


Source: Cell Press; Photo: Shutterstock.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

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