Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.

ABSTRACT:

Background

Genotype-phenotype correlation measures the correlation between the presence of a physical trait with a group of similar mutations but is dependent on reliable phenotyping. It can provide information on disease pathogenesis, future disease progression, severity or activity. Such indicators would be valuable in hidradenitis suppurativa (HS).

Objectives

To assess inter-rater reliability (IRR) of HS clinical phenotypes and perform exploratory genotype-phenotype correlation in cases of HS with identified sequence variants.

Methods

Linkage disequilibrium between variants was assessed. Genotype-phenotype correlations were explored using Spearman correlation coefficients. IRR was calculated using Cohen's κ. Correlation between phenotype classifications was assesse

SUBMITTER: Frew JW 

PROVIDER: S-EPMC6661213 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature