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Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.

Yung-Chun WangYuchang WuJulie ChoiGarrett AllingtonShujuan ZhaoMariam KhanfarKuangying YangPo-Ying FuMax WrubelXiaobing YuKedous Y MekbibJack OckenHannah SmithJohn ShohfiKristopher T KahleQiongshi LuSheng Chih Jin
Published in: Journal of personalized medicine (2022)
Rapid methodological advances in statistical and computational genomics have enabled researchers to better identify and interpret both rare and common variants responsible for complex human diseases. As we continue to see an expansion of these advances in the field, it is now imperative for researchers to understand the resources and methodologies available for various data types and study designs. In this review, we provide an overview of recent methods for identifying rare and common variants and understanding their roles in disease etiology. Additionally, we discuss the strategy, challenge, and promise of gene therapy. As computational and statistical approaches continue to improve, we will have an opportunity to translate human genetic findings into personalized health care.
Keyphrases
  • gene therapy
  • endothelial cells
  • copy number
  • healthcare
  • single cell
  • induced pluripotent stem cells
  • big data
  • genome wide
  • dna methylation
  • electronic health record
  • machine learning