Article
Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models.
Journal of computational biology : a journal of computational molecular cell biology - 1 Sept 2018
Larson Nicholas B, Wang Chen, Na Jie, Rowsey Ross A, Highsmith William Edward, Hoppman Nicole L, Kocher Jean-Pierre, Klee Eric W
Abstract excerpt
The recent advances in next-generation sequencing (NGS) technologies have enabled the development of effective high-throughput noninvasive prenatal screening (NIPS) assays for fetal genetic abnormalities using maternal circulating cell-free DNA (ccfDNA). An important NIPS quality assurance is quantifying the fetal proportion of the sampled ccfDNA. For methods using allelic read count ratios from targeted...
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