Current status and future perspectives of the evaluation of missense variants by using three-dimensional structures of proteins
Author:
Affiliation:
1. Graduate School of Medicine, Tohoku University
2. Tohoku Medical Megabank Organization, Tohoku University
Publisher
Biophysical Society of Japan
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/biophysico/19/0/19_e190023/_pdf
Reference22 articles.
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2. [2] Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 590, 290–299 (2021). https://doi.org/10.1038/s41586-021-03205-y
3. [3] Backman, J. D., Li, A. H., Marcketta, A., Sun, D., Mbatchou, J., Kessler, M. D., et al. Exome sequencing and analysis of 454,787 UK Biobank participants. Nature 599, 628–634 (2021). https://doi.org/10.1038/s41586-021-04103-z
4. [4] Landrum, M. J., Chitipiralla, S., Brown, G. R., Chen, C., Gu, B., Hart, J., et al. ClinVar: Improvements to accessing data. Nucleic Acids Res. 48, D835–D844 (2020). https://doi.org/10.1093/nar/gkz972
5. [5] Stenson, P. D., Mort, M., Ball, E. V., Evans, K., Hayden, M., Heywood, S., et al. The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum. Genetics 136, 665–677 (2017). https://doi.org/10.1007/s00439-017-1779-6
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