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Updated: Nov 2, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Genetic variations in medical research in the past, at present and in the future

Yoichiro Kamatani1, Yusuke Nakamura2

  • 1Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences, The University of Tokyo.

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
|June 14, 2021
PubMed

Keywords:
biobankgenetic variationsgenome wide association study (GWAS)immunogenomicspharmacogenomicsreverse genetics

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