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Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies

9 Nov 2019

Abstract excerpt

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...

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PMID: 31717530
DOI: 10.3390/jcm8111927

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