From Clinical Testing to Large Scale Population Genetic StudyTuesday, 6 November 2018 at 10:30 Add to Calendar ▼2018-11-06 10:30:002018-11-06 11:30:00Europe/LondonFrom Clinical Testing to Large Scale Population Genetic StudyAsia Diagnostics Summit 2018 in Taipei, TaiwanTaipei, TaiwanSELECTBIOenquiries@selectbiosciences.com Non-invasive prenatal testing (NIPT) has grown to be one of the largest single IVD service in the market. More than 1 million tests are performed every year, generating big data of low pass whole genome sequencing. We analyze the NIPT data from 141,431 Chinese women, to characterize the population genetic structure and to investigate genetic associations with maternal and infectious traits. We show that the present day distribution of alleles is a function of both ancient migration and very recent population movements. We reveal novel phenotype-genotype associations, including several replicated associations with height and BMI, an association between maternal age and EMB, and be- tween twin pregnancy and NRG1. Finally, we identify a unique pattern of circulating viral DNA in plasma with high prevalence of hepatitis B and other clinically relevant maternal infections. These findings demonstrate the great value and potential of accumulating NIPT data for worldwide medical and genetic analyses. |