GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies

GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies

Non-invasive prenatal testing (NIPT) screens for common fetal chromosomal abnormalities through analysis of circulating cell-free DNA in maternal blood by massive parallel sequencing. NIPT reliability relies on both the estimation of the fetal fraction (ff) and on the sequencing depth (sd) but how t...

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Bibliographic Details
Main Authors: David Pratella, Véronique Duboc, Marco Milanesio, John Boudjarane, Stéphane Descombes, Véronique Paquis-Flucklinger, Silvia Bottini
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Non-invasive prenatal testing
Fetal fraction
Aneuploidy detection
Confidence intervals
Semi-supervised method
Online Access:http://www.sciencedirect.com/science/article/pii/S200103702200054X

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http://www.sciencedirect.com/science/article/pii/S200103702200054X

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