Apr 28, 2020

Genetic differences between extreme and composite constitution types from whole exome sequences reveal actionable variations

BioRxiv : the Preprint Server for Biology
T. AbbasMitali Mukerji

Abstract

Personalized medicine relies on successful identification of genome-wide variations that governs inter-individual differences in phenotypes and system level outcomes. In Ayurveda, assessment of composite constitution types Prakriti forms the basis for risk stratification, predicting health and disease trajectories and personalized recommendations. Here, we report a novel method for identifying pleiotropic genes and variants that associate with healthy individuals of three extreme and contrasting Prakriti constitutions through exome sequencing and state-of-the-art computational methods. Exome Seq of three extreme Prakriti types from 108 healthy individuals 54 each from genetically homogeneous populations of North India (NI, Discovery cohort) and Western India (VADU, Replication cohort) were evaluated. Fisher's Exact Test was applied between Prakriti types in both cohorts and further permutation based p-value was used for selection of exonic variants. To investigate the effect of sample size per genetic association test, we performed power analysis. Functional impact of differentiating genes and variations were inferred using diverse resources -Toppfun, GTEx, GWAS, PheWAS, UK Biobank and mouse knockdown/knockout phenotype (MGI). ...Continue Reading

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Mentioned in this Paper

Genome-Wide Association Study
Patterns
Genes
Trees (plant)
Treatment or Procedure Explanation With Education
Primates
Convergence - Direction
Widespread
Species
Analysis

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