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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
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Self-citationANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
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Self-citationA method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
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TREM2 Variants in Alzheimer's Disease
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Cited by
Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat6177 · Cited by 300
Xia, Y., Tang, W., Qian, X., Li, X., Cheng, F., Wang, K., Zhang, F., Zhang, C., Li, D., Song, J., et al. (2022) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2022-004656 · Cited by 228
Self-citationCaforio, A. L. P., Re, F., Avella, A., Marcolongo, R., Baratta, P., Seguso, M., Gallo, N., Plebani, M., Izquierdo-Bajo, A., Cheng, C.-Y., et al. (2020) · Circulation · doi:10.1161/circulationaha.119.043931 · Cited by 104
Xiao, X., Liu, H., Liu, X., Zhang, W., Zhang, S., & Jiao, B. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.695808 · Cited by 99
Li, Q., Ren, Z., Cao, K., Li, M. M., Wang, K., & Zhou, Y. (2022) · Science Advances · doi:10.1126/sciadv.abj1624 · Cited by 66
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Metadata
- Authors
- Li, Q., & Wang, K.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-02
- Volume
- 100
- Issue
- 2
- Pages
- 267-280
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2580887223
- Cited by
- 1,038
- References
- 58
- FWCI
- 46.64
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Li, Q., & Wang, K. (2017). InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2017.01.004
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.