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Improved noninvasive fetal variant calling using standardized benchmarking approaches
The technology of noninvasive prenatal testing (NIPT) enables risk-free detection of genetic conditions in the fetus, by analysis of cell-free DNA (cfDNA) in maternal blood. For chromosomal abnormalities, NIPT often effectively replaces invasive tests (e.g. amniocentesis), although it is considered...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Research Network of Computational and Structural Biotechnology
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809098/ https://www.ncbi.nlm.nih.gov/pubmed/33510858 http://dx.doi.org/10.1016/j.csbj.2020.12.032 |