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Updated: Jul 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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RExPRT:一种机器学习工具,用于预测协同重复位置的病原性

Sarah Fazal1, Matt C Danzi1, Isaac Xu1

  • 1Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Miami, FL, 33136, USA.

Genome biology
|January 31, 2024
PubMed
概括

识别致病的双重重复 (TR) 扩张对于诊断遗传疾病至关重要. 一个新的机器学习工具,RExPRT,准确地区分引起疾病的TR扩张和良性的TR扩张.

关键词:
机器学习 机器学习罕见疾病是一种罕见的疾病.重复扩张的扩张.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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