KF-NIPT: K-mer and fetal fraction-based estimation of chromosomal anomaly from NIPT data - Kim, Dongin; Sohn, Ji Yeon; Cho, Jin Hee; Choi, Ji-Hye; Oh, Gwi-young; Woo, Hyun Goo (BMC bioinformatics, 2025)
Keywords: Abnormalities; Accuracy; Algorithm; Algorithms; Amniocentesis; Bioinformatics; Biomedical and Life Sciences; Cell-Free Nucleic Acids - genetics; cfDNA; Chromosome Aberrations; Chromosome abnormalities; Chromosomes; Computational Biology/Bioinformatics; Computer Appl. in Life Sciences; Data analysis; Datasets; Diagnosis; DNA sequencing; Error reduction; Female; Fetus - metabolism; Fetuses; Gene mapping; Gene sequencing; Genomes; Genomics; Humans; KF-score; Life Sciences; Linux; Machine learning; Methods; Microarrays; NIPT; Noninvasive Prenatal Testing - methods; Nucleotide sequence; Nucleotide sequencing; Pipeline; Pregnancy; Pregnant women; Prenatal diagnosis; Prenatal Diagnosis - methods; Python; Software; Source code; Standard scores; Subsystems; Villus; WGS; Whole Genome Sequencing; South Korea; KF-score; WGS; NIPT; Algorithm; cfDNA; Pipeline