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Noninvasive fetal genotyping using deep neural networks

22 Nov 2024

Abstract excerpt

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 testing (NIPT), which has become a standard for detecting chromosomal aberrations. However, identification of point mutations responsible for monogenic diseases...

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Cancer Genomics and Diagnostics
Genomic variations and chromosomal abnormalities
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39992001
DOI: 10.1093/bib/bbaf067

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