AI Article Synopsis

  • A new flexible model has been developed to analyze the relationship between genetic variants and traits without needing original individual-level genetic and phenotype data, relying instead on summary statistics.
  • This model builds on classical multiple linear regression methods but incorporates SNP-by-SNP correlations as explanatory variables and summary Z score statistics as response variables.
  • The proposed model produces identical results to traditional regional association analysis methods when using the same genetic data, ensuring no loss of information.

Article Abstract

Here I propose a fundamentally new flexible model to reveal the association between a trait and a set of genetic variants in a genomic region/gene. This model was developed for the situation when original individual-level phenotype and genotype data are not available, but the researcher possesses the results of statistical analyses conducted on these data (namely, SNP-level summary Z score statistics and SNP-by-SNP correlations). The new model was analytically derived from the classical multiple linear regression model applied for the region-based association analysis of individual-level phenotype and genotype data by using the linear compression of data, where the SNP-by-SNP correlations are among the explanatory variables, and the summary Z score statistics are categorized as the response variables. I analytically show that the regional association analysis methods developed within the framework of the classical multiple linear regression model with additive effects of genetic variants can be reformulated in terms of the new model without the loss of information. The results obtained from the regional association analysis utilizing the classical model and those derived using the proposed model are identical when SNP-by-SNP correlations and SNP-level statistics are estimated from the same genetic data.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445108PMC
http://dx.doi.org/10.1038/s41598-019-41827-5DOI Listing

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Article Synopsis
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  • This model builds on classical multiple linear regression methods but incorporates SNP-by-SNP correlations as explanatory variables and summary Z score statistics as response variables.
  • The proposed model produces identical results to traditional regional association analysis methods when using the same genetic data, ensuring no loss of information.
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