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WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis

In prenatal diagnostics, NIPT screening utilizing read coverage-based profiles obtained from shallow WGS data is routinely used to detect fetal CNVs. From this same data, fragment size distributions of fetal and maternal DNA fragments can be derived, which are known to be different, and often used t...

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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: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774687/
https://www.ncbi.nlm.nih.gov/pubmed/35054227
http://dx.doi.org/10.3390/diagnostics12010059