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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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 |