Academic Journal

New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits
Συγγραφείς: Kim, Kipoong, Jun, Tae-Hwan, Ha, Bo-Keun, Wang, Shuang, Sun, Hokeun
Έτος έκδοσης: 2023
Συλλογή: Columbia University: Academic Commons
Θεματικοί όροι: Genetics--Statistical methods, Phenotype, Human genetics--Variation, Medical genetics, National Human Genome Research Institute (U.S.)
Περιγραφή: Background Identification of pleiotropic variants associated with multiple phenotypic traits has received increasing attention in genetic association studies. Overlapping genetic associations from multiple traits help to detect weak genetic associations missed by single-trait analyses. Many statistical methods were developed to identify pleiotropic variants with most of them being limited to quantitative traits when pleiotropic effects on both quantitative and qualitative traits have been observed. This is a statistically challenging problem because there does not exist an appropriate multivariate distribution to model both quantitative and qualitative data together. Alternatively, meta-analysis methods can be applied, which basically integrate summary statistics of individual variants associated with either a quantitative or a qualitative trait without accounting for correlations among genetic variants. Results We propose a new statistical selection method based on a unified selection score quantifying how a genetic variant, i.e., a pleiotropic variant associates with both quantitative and qualitative traits. In our extensive simulation studies where various types of pleiotropic effects on both quantitative and qualitative traits were considered, we demonstrated that the proposed method outperforms the existing meta-analysis methods in terms of true positive selection. We also applied the proposed method to a peanut dataset with 6 quantitative and 2 qualitative traits, and a cowpea dataset with 2 quantitative and 6 qualitative traits. We were able to detect some potentially pleiotropic variants missed by the existing methods in both analyses. Conclusions The proposed method is able to locate pleiotropic variants associated with both quantitative and qualitative traits. It has been implemented into an R package ‘UNISS’, which can be downloaded from http://github.com/statpng/uniss.
Τύπος εγγράφου: article in journal/newspaper
Γλώσσα: English
DOI: 10.7916/v12v-2w65
Διαθεσιμότητα: https://doi.org/10.7916/v12v-2w65
Αριθμός Καταχώρησης: edsbas.A5DB50F3
Βάση Δεδομένων: BASE
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  Data: New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits
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  Data: <searchLink fieldCode="AR" term="%22Kim%2C+Kipoong%22">Kim, Kipoong</searchLink><br /><searchLink fieldCode="AR" term="%22Jun%2C+Tae-Hwan%22">Jun, Tae-Hwan</searchLink><br /><searchLink fieldCode="AR" term="%22Ha%2C+Bo-Keun%22">Ha, Bo-Keun</searchLink><br /><searchLink fieldCode="AR" term="%22Wang%2C+Shuang%22">Wang, Shuang</searchLink><br /><searchLink fieldCode="AR" term="%22Sun%2C+Hokeun%22">Sun, Hokeun</searchLink>
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  Data: 2023
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  Data: Columbia University: Academic Commons
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  Data: <searchLink fieldCode="DE" term="%22Genetics--Statistical+methods%22">Genetics--Statistical methods</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotype%22">Phenotype</searchLink><br /><searchLink fieldCode="DE" term="%22Human+genetics--Variation%22">Human genetics--Variation</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+genetics%22">Medical genetics</searchLink><br /><searchLink fieldCode="DE" term="%22National+Human+Genome+Research+Institute+%28U%2ES%2E%29%22">National Human Genome Research Institute (U.S.)</searchLink>
– Name: Abstract
  Label: Description
  Group: Ab
  Data: Background Identification of pleiotropic variants associated with multiple phenotypic traits has received increasing attention in genetic association studies. Overlapping genetic associations from multiple traits help to detect weak genetic associations missed by single-trait analyses. Many statistical methods were developed to identify pleiotropic variants with most of them being limited to quantitative traits when pleiotropic effects on both quantitative and qualitative traits have been observed. This is a statistically challenging problem because there does not exist an appropriate multivariate distribution to model both quantitative and qualitative data together. Alternatively, meta-analysis methods can be applied, which basically integrate summary statistics of individual variants associated with either a quantitative or a qualitative trait without accounting for correlations among genetic variants. Results We propose a new statistical selection method based on a unified selection score quantifying how a genetic variant, i.e., a pleiotropic variant associates with both quantitative and qualitative traits. In our extensive simulation studies where various types of pleiotropic effects on both quantitative and qualitative traits were considered, we demonstrated that the proposed method outperforms the existing meta-analysis methods in terms of true positive selection. We also applied the proposed method to a peanut dataset with 6 quantitative and 2 qualitative traits, and a cowpea dataset with 2 quantitative and 6 qualitative traits. We were able to detect some potentially pleiotropic variants missed by the existing methods in both analyses. Conclusions The proposed method is able to locate pleiotropic variants associated with both quantitative and qualitative traits. It has been implemented into an R package ‘UNISS’, which can be downloaded from http://github.com/statpng/uniss.
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  Data: 10.7916/v12v-2w65
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