Fig. 1: Overview of the analysis workflow.
From: Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Exome and phenotype data obtained from the UKB were processed and used in three types of association analysis: GenRisk, SKAT-O, and single-variant testing. Four different phenotype models were used, of which three distinguishing cases (red) and controls (grey), as well as one continuous phenotype model. To interpret the association findings, several downstream follow-up analyses were performed. VEP ensembl variant effect predictor, HWE Hardy-Weinberg-equilibrium, MAF minor allele frequency, GWAS genome-wide association study, MPHL male-pattern hair loss. MPHL pattern diagrams adapted from the UK Biobank survey accessible at https://biobank.ctsu.ox.ac.uk/crystal/refer.cgi?id=100423 and reproduced by kind permission of UK Biobank ©.
