KF-NIPT: K-mer and fetal fraction-based estimation of chromosomal anomaly from NIPT data.

ABSTRACT:

Background

Non-Invasive Prenatal Testing (NIPT) is a technique that allows pregnant women to screen for chromosomal abnormalities in their developing fetus without the need for invasive procedures like amniocentesis or chorionic villus sampling. However, current methods to detect anomaly from maternal cell-free DNAs (cfDNAs) that are based on the sequence read counts calculating z-scores face challenges with false positives and negatives. To address these challenges, we aimed to develop a novel NIPT algorithm named KF-NIPT, which is derived from the initials of k-mer and fetal fraction used in its development with the goal of significantly improving accuracy.

Results

We developed a KF-NIPT, a new algorithm that estimate chromosomal anomaly by calculating K-mer-based sequence

SUBMITTER: Kim D 

PROVIDER: S-EPMC12100778 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature