The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
Open accessAbstract
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (<0.5% frequency) in exome sequencing data from nearly 60,000 individuals in the Exome Aggregation Consortium (ExAC) database. On average, individuals possessed 0.81 deleted and 1.75 duplicated genes, and most (70%) carried at least one rare genic CNV. For every gene, we empirically estimated an index of relative intolerance to CNVs that demonstrated moderate correlation with measures of genic constraint based on single-nucleotide variation (SNV) and was independently correlated with measures of evolutionary conservation. For individuals with schizophrenia, genes affected by CNVs were more intolerant than in controls. The ExAC CNV data constitute a critical component of an integrated database spanning the spectrum of human genetic variation, aiding in the interpretation of personal genomes as well as population-based disease studies. These data are freely available for download and visualization online.
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Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
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Detection of large-scale variation in the human genome
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Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation
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Self-citationDe novo mutations in schizophrenia implicate synaptic networks
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Self-citationGenome-wide association analysis identifies 13 new risk loci for schizophrenia
Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2742 · Cited by 1,496
Self-citationA polygenic burden of rare disruptive mutations in schizophrenia
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Self-citationMechanisms of change in gene copy number
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Analysis of protein-coding genetic variation in 60,706 humans
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Self-citationA structural variation reference for medical and population genetics
Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature · doi:10.1038/s41586-020-2287-8 · Cited by 1,037
Self-citationGene expression across mammalian organ development
Cardoso-Moreira, M., Halbert, J., Valloton, D., Velten, B., Chen, C., Shao, Y., Liechti, A., Ascenção, K., Rummel, C., Ovchinnikova, S., et al. (2019) · Nature · doi:10.1038/s41586-019-1338-5 · Cited by 838
Pathogenic Germline Variants in 10,389 Adult Cancers
Huang, K.-L., Mashl, R. J., Wu, Y., Ritter, D. I., Wang, J., Oh, C., Paczkowska, M., Reynolds, S., Wyczalkowski, M. A., Oak, N., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.039 · Cited by 833
Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01104-0 · Cited by 640
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Metadata
- Authors
- Exome Aggregation Consortium, Ruderfer, D. M., Hamamsy, T., Lek, M., Karczewski, K. J., Kavanagh, D., Samocha, K. E., Daly, M. J., MacArthur, D. G., Fromer, M., & Purcell, S. M.
- Venue
- Nature Genetics
- Published
- 2016-08-17
- Volume
- 48
- Issue
- 10
- Pages
- 1107-1111
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2512464499
- Cited by
- 169
- References
- 17
- FWCI
- 23.73
- Type
- journal article
- Language
- en
- Open access
- green
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- Exome Aggregation Consortium, Ruderfer, D. M., Hamamsy, T., Lek, M., Karczewski, K. J., Kavanagh, D., Samocha, K. E., Daly, M. J., MacArthur, D. G., Fromer, M., & Purcell, S. M. (2016). Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nature Genetics. https://doi.org/10.1038/ng.3638
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