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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2023
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| Materias: | |
| 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 |