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Better prediction of functional effects for sequence variants
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SNAP2 identified somatic mutations with high likelihood of functional impairment, accounting for 25-52% of total 235 missense mutations depending on evaluation stringency.
“We first used the SNAP2 tool to assess the potential impact of the missense mutations32, through which we identified a number of somatic mutations with high likelihood of functional impairment, accounting for 25 – 52% of total 235 missense mutations, depending on the evaluation stringency (Extended Data Table 2).”
From Structural organization of the retriever–CCC endosomal recycling complex (2024) · cites this paper as [32]
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Altschul, S. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.17.3389 · Cited by 73,302
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A 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
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
Complete mutagenesis of the HIV-1 protease
Loeb, D. D., Swanstrom, R., Everitt, L., Manchester, M., Stamper, S. E., & Hutchison, C. A. (1989) · Nature · doi:10.1038/340397a0 · Cited by 327
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Metadata
- Authors
- Hecht, M., Bromberg, Y., & Rost, B.
- Venue
- BMC Genomics
- Published
- 2015-06-18
- Volume
- 16
- Issue
- S8
- ISSN
- 1471-2164
- PMC
- PMC4480835
- Cited by
- 569
- References
- 5
- Language
- en
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