Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information.

ABSTRACT: Cell-free fetal DNA fraction (FF) in maternal plasma is a key parameter affecting the performance of noninvasive prenatal testing (NIPT). Accurate quantitation of FF plays a pivotal role in these tests. However, there are few methods that could determine FF with high accuracy using shallow-depth whole-genome sequencing data. In this study, we hypothesized that the actual FF in maternal plasma should be proportional to the discrepancy rate between the observed genotypes and inferred genotypes based on the linkage disequilibrium rule in certain polymorphism sites. Based on this hypothesis, we developed a method named Linkage Disequilibrium information-based cell-free Fetal DNA Fraction (LDFF) to accurately quantify FF in maternal plasma. This method achieves a high performance and outperform

SUBMITTER: Ju J 

PROVIDER: S-EPMC8511193 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature