Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies.

ABSTRACT: Haemoglobinopathies are common monogenic disorders with diverse clinical manifestations, partly attributed to the influence of modifier genes. Recent years have seen enormous growth in the amount of genetic data, instigating the need for ranking methods to identify candidate genes with strong modifying effects. Here, we present the first evidence-based gene ranking metric (IthaScore) for haemoglobinopathy-specific phenotypes by utilising curated data in the IthaGenes database. IthaScore successfully reflects current knowledge for well-established disease modifiers, while it can be dynamically updated with emerging evidence. Protein-protein interaction (PPI) network analysis and functional enrichment analysis were employed to identify new potential disease modifiers and to evaluate the biol

SUBMITTER: Stephanou C 

PROVIDER: S-EPMC6912721 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature