The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Settling the score: variant prioritization and Mendelian disease
Open accessAbstract
When investigating Mendelian disease using exome or genome sequencing, distinguishing disease-causing genetic variants from the multitude of candidate variants is a complex, multidimensional task. Many prioritization tools and online interpretation resources exist, and professional organizations have offered clinical guidelines for review and return of prioritization results. In this Review, we describe the strengths and weaknesses of widely used computational approaches, explain their roles in the diagnostic and discovery process and discuss how they can inform (and misinform) expert reviewers. We place variant prioritization in the wider context of gene prioritization, burden testing and genotype–phenotype association, and we discuss opportunities and challenges introduced by whole-genome sequencing.
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The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature · doi:10.1038/s41586-020-2308-7 · Cited by 9,434
The DisGeNET knowledge platform for disease genomics: 2019 update
Piñero, J., Ramírez-Anguita, J. M., Saüch-Pitarch, J., Ronzano, F., Centeno, E., Sanz, F., & Furlong, L. I. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1021 · Cited by 2,639
The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2019) · doi:10.1101/531210 · Cited by 1,662
The DisGeNET cytoscape app: Exploring and visualizing disease genomics data
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Undiagnosed Diseases Network, Frésard, L., Care4Rare Canada Consortium, Smail, C., Ferraro, N. M., Teran, N. A., Li, X., Smith, K. S., Bonner, D., Kernohan, K. D., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0457-8 · Cited by 321
Metadata
- Authors
- Eilbeck, K., Quinlan, A., & Yandell, M.
- Venue
- Nature Reviews Genetics
- Published
- 2017-08-14
- Volume
- 18
- Issue
- 10
- Pages
- 599-612
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2746751314
- Cited by
- 228
- References
- 26
- FWCI
- 3.95
- Type
- journal article
- Language
- en
- Open access
- green
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- Eilbeck, K., Quinlan, A., & Yandell, M. (2017). Settling the score: variant prioritization and Mendelian disease. Nature Reviews Genetics. https://doi.org/10.1038/nrg.2017.52
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