A comprehensive performance analysis of sequence-based within-sample testing NIPT methods.

ABSTRACT:

Background

Non-Invasive Prenatal Testing is often performed by utilizing read coverage-based profiles obtained from shallow whole genome sequencing to detect fetal copy number variations. Such screening typically operates on a discretized binned representation of the genome, where (ab)normality of bins of a set size is judged relative to a reference panel of healthy samples. In practice such approaches are too costly given that for each tested sample they require the resequencing of the reference panel to avoid technical bias. Within-sample testing methods utilize the observation that bins on one chromosome can be judged relative to the behavior of similarly behaving bins on other chromosomes, allowing the bins of a sample to be compared among themselves, avoiding technical bias.

SUBMITTER: Mokveld T 

PROVIDER: S-EPMC10104307 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature