PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.

Journal: Bioinformatics (Oxford, England)
Published Date: Oct 1, 2019

Abstract

MOTIVATION: Whole-exome sequencing (WES) is now being used in clinical practice for the diagnosis of the causal genes of Mendelian diseases. In order to make the diagnosis, however, the clinical phenotypes [e.g. Human Phenotype Ontology (HPO) terms] of a patient are needed for prioritizing the variants called from the WES data of the patient. Computational tools are therefore needed to standardize and accelerate this process.

Authors

  • Zixiu Li
    State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, Shanghai, China.
  • Feng Zhang
    Institute of Food Safety, Chinese Academy of Inspection and Quarantine, Beijing 100176, China; Key Laboratory of Food Quality and Safety for State Market Regulation, Beijing 100176, China. Electronic address: fengzhang@126.com.
  • Yukai Wang
    Department of Biostatistics and Computational Biology, School of Life Sciences, Fudan University, Shanghai, China.
  • Yue Qiu
    Department of Anesthesiology and Perioperative Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
  • Yang Wu
  • Yulan Lu
    The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defect, Translational Medicine Research Center of Children Development and Diseases, Pediatrics Research Institute, Shanghai, China.
  • Lin Yang
    National Clinical Research Center for Metabolic Diseases, Key Laboratory of Diabetes Immunology (Central South University), Ministry of Education, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, Changsha, China.
  • William J Qu
    Centennial High School, Ellicott City, MD, USA.
  • Huijun Wang
    The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defect, Translational Medicine Research Center of Children Development and Diseases, Pediatrics Research Institute, Shanghai, China.
  • Wenhao Zhou
    The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defect, Translational Medicine Research Center of Children Development and Diseases, Pediatrics Research Institute, Shanghai, China.
  • Weidong Tian
    State Key Laboratory of Genetic Engineering, Collaborative Innovation Center of Genetics and Development, Department of Biostatistics and Computational Biology, School of Life Science, Fudan University, Shanghai 200433, PR China; Children's Hospital of Fudan University, Shanghai 200433, PR China. Electronic address: weidong.tian@fudan.edu.cn.

Keywords

External Resources

Popular Topics
Recent Journals