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...

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Detalles Bibliográficos
Autores principales: Rabinowitz, Tom, Deri-Rozov, Shira, Shomron, Noam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Research Article
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

Internet

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

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