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

<h4>Background</h4>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, wher...

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Detalhes bibliográficos
Principais autores: Tom Mokveld, Zaid Al-Ars, Erik A Sistermans, Marcel Reinders
Formato: Artigo
Idioma:English
Publicado em: Public Library of Science (PLoS) 2023-01-01
coleção:PLoS ONE
Acesso em linha:https://doi.org/10.1371/journal.pone.0284493