MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing

Conclusion: MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it...

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Bibliographic Details
Main Authors: Federico Gabrielli, Filomena Tiziana Papa, Fabio Di Pietro, Andreu Paytuví-Gallart, Daniel Julian, Walter Sanseverino, Cinzia Alfonsi
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2024/8859058
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Summary:Conclusion: MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it as a promising and valuable addition to prenatal diagnostic technologies. This enhancement to diagnostic precision significantly aids clinicians in making informed decisions during pregnancy management.
ISSN:2314-4378