The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Variant interpretation using population databases: Lessons from gnomAD
Open accessAbstract
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new disease-gene relationships. The Genome Aggregation Database (gnomAD) is currently the largest and most widely used publicly available collection of population variation from harmonized sequencing data. The data is available through the online gnomAD browser (https://gnomad.broadinstitute.org/) that enables rapid and intuitive variant analysis. This review provides guidance on the content of the gnomAD browser, and its usage for variant and gene interpretation. We introduce key features including allele frequency, per-base expression levels, constraint scores, and variant co-occurrence, alongside guidance on how to use these in analysis, with a focus on the interpretation of candidate variants and novel genes in rare disease.
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A deep catalogue of protein-coding variation in 983,578 individuals
Sun, K. Y., Bai, X., Chen, S., Bao, S., Zhang, C., Kapoor, M., Backman, J., Joseph, T., Maxwell, E., Mitra, G., et al. (2024) · Nature · doi:10.1038/s41586-024-07556-0 · Cited by 127
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Dawood, M., Fayer, S., Pendyala, S., Post, M., Kalra, D., Patterson, K., Venner, E., Muffley, L. A., Fowler, D. M., Rubin, A. F., et al. (2024) · Genome Medicine · doi:10.1186/s13073-024-01392-7 · Cited by 31
Somatic mutations alter the differentiation outcomes of iPSC-derived neurons
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Metadata
- Authors
- Gudmundsson, S., Singer‐Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Genome Aggregation Database Consortium, Rehm, H. L., MacArthur, D. G., & O'Donnell‐Luria, A.
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2021-12-16
- Volume
- 43
- Issue
- 8
- Pages
- 1012-1030
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W3185808000
- Cited by
- 674
- References
- 48
- FWCI
- 39.03
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Gudmundsson, S., Singer‐Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Genome Aggregation Database Consortium, Rehm, H. L., MacArthur, D. G., & O'Donnell‐Luria, A. (2022). Variant interpretation using population databases: Lessons from gnomAD. Human Mutation. https://doi.org/10.1002/humu.24309
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