The endocardial surface of the adult human hearts consists of a complex network of muscular trabeculae. Thought to be a remnant of embryonic development, it remains uknown why these complex structures still persistent in the adult organ. Here, we use population genomics, image-based intermediate phenotyping and in silico modelling to determine the effect of this complex cardiovascular trait on function.
The full study is available at: BioRxiv link here
The following repository contains all data analysis and processing scripts applied in the study.
Data processing and analysis is embedded into different snakemake (v5.1.5) workflows. Genetics analyses require plink v1.9 and v2 as well as flashpca. Data visualisation and processing is done in R, version 3.4.1. Genetic association testing requires Bgenie v1.3.
Code for post-processing of fractal-analysis results including interpolation of FD values to a common number of slices across individuals, summary statistics of FD values per individual and a collection of functions for co-registration of myocardial and trabeculation outlines.
Trabeculation GWAS in UKB cohort (discovery cohort) containing analysis pipelines for genotype and phenotype processing, GWAS, GWAS results processing, functional enrichement and Mendelian randomisation analyses.
Trabeculation GWAS in Digital-heart project cohort (validation cohort) containing analysis pipelines for genotype and phenotype processing, GWAS and GWAS results processing.