Machine learning method using position-specific mutation based classification outperforms one hot coding for disease severity prediction in haemophilia 'A'.

Abstract excerpt

Haemophilia is an X-linked genetic disorder in which A and B types are the most common that occur due to absence or lack of protein factors VIII and IX, respectively. Severity of the disease depends on mutation. Available Machine Learning (ML) methods that predict the mutational severity by using traditional encoding approaches, generally have high time complexity and compromised accuracy. In this study,...

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