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[The application of human mutation databases].

Yong-Long Zuang1, Min Zhou, Yan-Da Li

  • 1Institute of Bioinformatics, Tsinghua University, BeiJing 100 084, China. zhuangyl99@mails.tsinghua.edu.cn

Yi Chuan = Hereditas
|January 11, 2005
PubMed
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Human genome mutation research is vital. This review classifies and evaluates human mutation databases, offering guidance on their use and discussing current limitations for researchers.

Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Context:

  • The completion of the human genome DNA sequence has increased the importance of genome mutation research.
  • Numerous human mutation databases exist, covering various aspects of genetic variation.

Purpose:

  • To classify and review existing human mutation databases.
  • To provide guidance on effectively utilizing these resources.
  • To identify and discuss challenges within current mutation databases.

Summary:

  • This review categorizes human mutation databases, including general mutation, single nucleotide polymorphisms (SNP), disease-specific, protein-specific, and gene-specific resources.
  • It offers practical advice for researchers on leveraging these databases for genetic studies.

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  • The review also critically examines the limitations and potential improvements for existing mutation databases.

    • Impact:

    • Facilitates informed selection and utilization of mutation databases by researchers.
    • Highlights areas for database development and improvement in genomics.
    • Supports advancements in understanding human genetic variation and its implications for health and disease.