scholarly journals Bayesian model averaging for the X-chromosome inactivation dilemma in genetic association study

Author(s):  
Bo Chen ◽  
Radu V Craiu ◽  
Lei Sun
2019 ◽  
Vol 98 (4) ◽  
Author(s):  
Wei Liu ◽  
Bei-Qi Wang ◽  
Guojun Liu-Fu ◽  
Wing Kam Fung ◽  
Ji-Yuan Zhou

Author(s):  
Christine Peterson ◽  
Michael Swartz ◽  
Sanjay Shete ◽  
Marina Vannucci

2019 ◽  
Vol 29 (5) ◽  
pp. 1305-1314
Author(s):  
Dongxiao Han ◽  
Meiling Hao ◽  
Lianqiang Qu ◽  
Wei Xu

The X-linked genetic association is overlooked in most of the genetic studies because of the complexity of X-chromosome inactivation process. In fact, the biological process of the gene at the same locus can vary across different subjects. Besides, the skewness of X-chromosome inactivation is inherently subject-specific (even tissue-specific within subjects) and cannot be accurately represented by a population-level parameter. To tackle this issue, a new model is proposed to incorporate the X-linked genetic association into right-censored survival data. The novel model can present that the X-linked genes on different subjects may go through different biological processes via a mixed distribution. Further, a random effect is employed to describe the uncertainty of the biological process for every subject. The proposed method can derive the probability for the escape of X-chromosome inactivation and derive the unbiased estimates of the model parameters. The Legendre–Gauss Quadrature method is used to approximate the integration over the random effect. Finite sample performance of this method is examined via extensive simulation studies. An application is illustrated with the implementation on a cancer genetic study with right-censored survival data.


2009 ◽  
Vol 42 (05) ◽  
Author(s):  
M Boxleitner ◽  
I Giegling ◽  
AM Hartmann ◽  
J Genius ◽  
A Ruppert ◽  
...  

Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).


Author(s):  
Lorenzo Bencivelli ◽  
Massimiliano Giuseppe Marcellino ◽  
Gianluca Moretti

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