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

Singh Vikalp Kumar; Maurya Neha Shree; Mani Ashutosh; Yadav Rama Shankar

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

机译：机器学习方法使用基于位置特异性突变的分类优于血友病“A”中疾病严重程度预测的一次热编码

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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, Haemophilia 'A' patient mutation dataset containing 7784 mutations was processed by the proposed Position-Specific Mutation (PSM) and One-Hot Encoding (OHE) technique to predict the disease severity. The dataset processed by PSM and OHE methods was analyzed and trained for classification of mutation severity level using various ML algorithms. Surprisingly, PSM outperformed OHE, both in terms of time efficiency and accuracy, with training and prediction time improvement in the range of approximately 91 to 98% and 80 to 99% respectively. The severity prediction accuracy also improved by using PSM with different ML algorithms.

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来源
《Genomics》 |2020年第6期|共7页
作者
Singh Vikalp Kumar; Maurya Neha Shree; Mani Ashutosh; Yadav Rama Shankar;
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作者单位

Motilal Nehru Natl Inst Technol Allahabad Dept Comp Sci &

Engn Allahabad 211004 UP India;

Motilal Nehru Natl Inst Technol Allahabad Dept Biotechnol Allahabad 211004 UP India;

Motilal Nehru Natl Inst Technol Allahabad Dept Biotechnol Allahabad 211004 UP India;

Motilal Nehru Natl Inst Technol Allahabad Dept Comp Sci &

Engn Allahabad 211004 UP India;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
Machine learning; Mutation; Position specific mutation; One-hot encoding; Haemophilia; Factor VIII;

机译：机器学习;突变;位置特异性突变;一次性编码;血友病;因子VIII;

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

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