Testing and Estimating the Non‐Disjunction Fraction in Meiosis I using Reference Priors

Abstract

SummaryIn this paper we analyze the fraction of non-disjunction in Meiosis I assuming reference (non-informative) priors. We consider Jeffreys's approach to built a non-informative prior (Jeffreys's prior) for the fraction of non-disjunction in Meiosis I. We prove that Jeffreys's prior is a proper distribution. We perform Monte Carlo studies in order to compare Bayes estimates obtained assuming Jeffreys's and uniform priors. We consider full Bayesian significance test (FBST) and Bayes factor (BF) for testing precise hypothesis on the fraction of non-disjunction in Meiosis I. The ultimate goal of this paper is to compare these two test procedures through simulation studies using both prior specifications. An application to Down Syndrome data is also presented.

Test, estimation and model comparison for the meiosis I nondisjunction fraction in trisomies

“…Later, Bayesian tests for such situation were presented by Loschi et al (2007). Here, we extend Loschi et al's (2007) ideas for all misclassification models discussed in the previous section.…”

“…along many others. More recently, Bayesian and Classical approaches to infer about φ, assuming models that do not take the parental information into consideration, are presented by Franco et al (2003) and Loschi et al (2007).Prenatal diagnosis of aneuploidies can be done by employing the polymerase chain reaction (PCR) based approach followed by a quantitative analysis by computer-assisted laser densitometry. Such procedure provides as a result a graphic in which the peaks represent the different alleles in the loco of interest.…”

“…along many others. More recently, Bayesian and Classical approaches to infer about φ, assuming models that do not take the parental information into consideration, are presented by Franco et al (2003) and Loschi et al (2007).…”

Reference Analysis in a Misclassification Model for the Meiosis I Nondisjunction Fraction in Trisomies

“…Down syndrome affects the cognitive abilities of the child and approximately half of them can also have congenital heart defects and problems with hearing and vision, and they are prone to develop pulmonary hypertension. e causes of Down syndrome are unknown, but there is evidence that in the trisomy of chromosome 21 the rate of nondisjunction increases with the age of the mother [2]. Women aged 35 or older have signi�cantly higher risk of having a child with Down syndrome.…”

“…More recently, Bayesian and classical approaches to infer about , assuming models that do not take into account the parental information, are presented in [2,16].…”