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 fr...

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Bibliographic Details
Main Authors: Dongin Kim, Ji Yeon Sohn, Jin Hee Cho, Ji-Hye Choi, Gwi-young Oh, Hyun Goo Woo
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Bioinformatics
Subjects:
Online Access:https://doi.org/10.1186/s12859-025-06127-y
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