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Updated: Aug 18, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Methods of statistical genetics and use of database for genome information]
1Institute of Rheumatology and Division of Genomic Medicine, Department of Advanced Biomedical Engineering and Science, Tokyo Women's Medical University.
Abstract:
Knowledge and technology of bioinformatics have become inevitable for gene and genome research. Education and research in this field of science are not sufficient in Japan. There are two different approaches to trait mapping, the way by which traits are mapped on the genome. Thus, the knowledge-based approach uses functions of molecules while the statistics-based approach uses polymorphisms. Statistics-based approach uses two different methods, linkage analysis and analysis based on linkage disequilibrium. Various phenotypes are efficiently mapped on the genome using such methods. Recently, bioinformatic data base search is mostly performed using internet. Anyone can perform sequence-search, homology-search and SNP-search. Since such data bases change quickly, readers should access the databases themselves and be used to the procedures for them.
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