AIMC Topic: Noninvasive Prenatal Testing

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Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.

Prenatal diagnosis
OBJECTIVE: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularl...

FF-QuantSC: accurate quantification of fetal fraction by a neural network model.

Molecular genetics & genomic medicine
BACKGROUND: Noninvasive prenatal testing (NIPT) is one of the most commonly employed clinical measures for screening of fetal aneuploidy. Fetal Fraction (ff) has been demonstrated to be one of the key factors affecting the performance of NIPT. Accura...

Noninvasive fetal genotyping using deep neural networks.

Briefings in bioinformatics
Circulating cell-free DNA (cfDNA) is a powerful diagnostics tool that is widely studied in the context of liquid biopsy in oncology and other fields. In obstetrics, maternal plasma cfDNA have already proven its utility, enabling noninvasive prenatal ...