Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Journal: European journal of medical research
PMID:

Abstract

BACKGROUND: Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children. Early detection and intervention before the appearance of a newborn's clinical symptoms can control disease progression and prevent or mitigate its serious consequences.

Authors

  • Zhe Yin
    National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Chuan Zhang
    West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, Sichuan Province 610000, China.
  • Rui Dong
    College of Physical Education, South China Normal University, Guangzhou, China.
  • Xinyuan Zhang
    Department of Electrical and Electronic Engineering, The University of Hong Kong, Hong Kong, China.
  • Yingnan Song
    National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
  • Shengju Hao
    Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Zhongtao Gai
    Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
  • Bingbo Zhou
    Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Ling Hui
    Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Shifan Wang
    Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Huiqin Xue
    Department of Cytogenetic Laboratory, Shanxi Children's Hospital, Shanxi Women and Children Hospital, Affiliated Hospital of Shanxi Medical University, Taiyuan, China.
  • Zongfu Cao
    National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China. zongfu_cao@163.com.
  • Yi Liu
    Department of Interventional Therapy, Ningbo No. 2 Hospital, Ningbo, China.
  • Xu Ma
    College of Geography and Remote Sensing Sciences, Xinjiang University, Urumqi, China.