The DOI matches its Crossref record; 56 of the 56 references it cites were found in a registry or an index.
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Open accessAbstract
Whole exome sequencing has been increasingly used in human disease studies. Prioritization based on appropriate functional annotations has been used as an indispensable step to select candidate variants. Here we present the latest updates to dbNSFP (version 4.1), a database designed to facilitate this step by providing deleteriousness prediction and functional annotation for all potential nonsynonymous and splice-site SNVs (a total of 84,013,093) in the human genome. The current version compiled 36 deleteriousness prediction scores, including 12 transcript-specific scores, and other variant and gene-level functional annotations. The database is available at http://database.liulab.science/dbNSFP with a downloadable version and a web-service.
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Cites
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“…MVP [27], PrimateAI [28], REVEL [29], SIFT4G [30]), one score for loss of function prediction (ALoFT [31]), and three conservation scores (phyloP17-way_primate [32], phastCons17way_primate [33], bStatistic [34]), making the total number of prediction scores to 46 (Additional file 1: Table S1).”
BackgroundCADD: predicting the deleteriousness of variants throughout the human genome
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Cited by
Accurate proteome-wide missense variant effect prediction with AlphaMissense
Cheng, J., Novati, G., Pan, J., Bycroft, C., Žemgulytė, A., Applebaum, T., Pritzel, A., Wong, L. H., Zielinski, M., Sargeant, T., et al. (2023) · Science · doi:10.1126/science.adg7492 · Cited by 2,163
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“Except for BayesDel, CADD, EA, MutPred2, and PolyPhen-2, precomputed variant prediction scores for all tools were obtained from the database of human nonsynonymous SNPs and their functional predictions (dbNSFP).(26) For the five tools mentioned above, prediction scores were generated for the variants considered in thi…”
MethodSchubach, M., Maass, T., Nazaretyan, L., Röner, S., & Kircher, M. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkad989 · Cited by 455
Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01208-7 · Cited by 226
(2023) · doi:10.1101/2023.12.07.570727 · Cited by 207
Metadata
- Authors
- Liu, X., Li, C., Mou, C., Dong, Y., & Tu, Y.
- Venue
- Genome Medicine
- Published
- 2020-12
- Volume
- 12
- Issue
- 1
- Pages
- 103-103
- ISSN
- 1756-994X (ISSN-L)
- OpenAlex
- W3107322429
- Cited by
- 657
- References
- 56
- FWCI
- 38.59
- Type
- journal article
- Language
- en
- Open access
- gold
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- Liu, X., Li, C., Mou, C., Dong, Y., & Tu, Y. (2020). dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Medicine. https://doi.org/10.1186/s13073-020-00803-9
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