Abstract
Noninvasive prenatal diagnosis (NIPD) poses a promising solution for detecting genetic alterations in fetus genome. However, inference the maternal allele inheritance of monogenic autosomal recessive disease is still challenging. We perform the null hypothesis testing of haplotype frequency using a hierarchical Bayesian model to deduce the allele inheritance. The Bayesian approach, which does not depend on the fetus DNA proportion in maternal plasma, provides accurate estimations on real and simulated datasets, moreover, it is most robust than current methods in analyzing noisy or even erroneous datasets.
Copyright
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