Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing.

ABSTRACT:

Background

The applications of massively parallel sequencing technology to fetal cell-free DNA (cff-DNA) have brought new insight to non-invasive prenatal diagnosis. However, most previous research based on maternal plasma sequencing has been restricted to fetal aneuploidies. To detect specific parentally inherited mutations, invasive approaches to obtain fetal DNA are the current standard in the clinic because of the experimental complexity and resource consumption of previously reported non-invasive approaches.

Methods

Here, we present a simple and effective non-invasive method for accurate fetal genome recovery-assisted with parental haplotypes. The parental haplotype were firstly inferred using a combination strategy of trio and unrelated individuals. Assisted with the p

SUBMITTER: Chen S 

PROVIDER: S-EPMC3706925 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature