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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | BMC Bioinformatics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12859-025-06127-y |
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