A comprehensive performance analysis of sequence-based within-sample testing NIPT methods

BACKGROUND: Non-Invasive Prenatal Testing is often performed by utilizing read coverage-based profiles obtained from shallow whole genome sequencing to detect fetal copy number variations. Such screening typically operates on a discretized binned representation of the genome, where (ab)normality of...

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Detalles Bibliográficos
Autores principales: Mokveld, Tom, Al-Ars, Zaid, Sistermans, Erik A., Reinders, Marcel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104307/
https://www.ncbi.nlm.nih.gov/pubmed/37058455
http://dx.doi.org/10.1371/journal.pone.0284493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104307/
https://www.ncbi.nlm.nih.gov/pubmed/37058455
http://dx.doi.org/10.1371/journal.pone.0284493

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