The DOI matches its Crossref record; 64 of the 64 references it cites were found in a registry or an index.
The human gene damage index as a gene-level approach to prioritizing exome variants
Open accessAbstract
Significance: The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to select disease-causing candidate mutation(s), a challenge is to filter out as many false-positive (FP) variants as possible. In this study, we describe the gene damage index (GDI), a metric for the nonsynonymous mutational load in each protein-coding gene in the general population. We show that the GDI is an efficient gene-level method for filtering out FP variants in genes that are highly damaged in the general population.
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Cites
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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
Self-citationSignatures of negative selection in the genetic architecture of human complex traits
Zeng, J., de Vlaming, R., Wu, Y., Robinson, M. R., Lloyd-Jones, L. R., Yengo, L., Yap, C. X., Xue, A., Sidorenko, J., McRae, A. F., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0101-4 · Cited by 391
The mutation significance cutoff: gene-level thresholds for variant predictions
Itan, Y., Shang, L., Boisson, B., Ciancanelli, M. J., Markle, J. G., Martinez-Barricarte, R., Scott, E., Shah, I., Stenson, P. D., Gleeson, J., et al. (2016) · Nature Methods · doi:10.1038/nmeth.3739 · Cited by 328
Self-citationHuman TBK1: A Gatekeeper of Neuroinflammation
Ahmad, L., Zhang, S.-Y., Casanova, J.-L., & Sancho-Shimizu, V. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.04.006 · Cited by 208
Self-citationCoban-Akdemir, Z., White, J. J., Song, X., Jhangiani, S. N., Fatih, J. M., Gambin, T., Bayram, Y., Chinn, I. K., Karaca, E., Punetha, J., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.06.009 · Cited by 219
Metadata
- Authors
- Itan, Y., Shang, L., Boisson, B., Patin, E., Bolze, A., Moncada-Vélez, M., Scott, E., Ciancanelli, M. J., Lafaille, F. G., Markle, J. G., Martinez-Barricarte, R., de Jong, S. J., Kong, X.-F., Nitschke, P., Belkadi, A., Bustamante, J., Puel, A., Boisson-Dupuis, S., Stenson, P. D., Gleeson, J. G., Cooper, D. N., Quintana-Murci, L., Claverie, J.-M., Zhang, S.-Y., Abel, L., & Casanova, J.-L.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2015-10-19
- Volume
- 112
- Issue
- 44
- Pages
- 13615-13620
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1925054293
- Cited by
- 275
- References
- 64
- FWCI
- 15.62
- Type
- journal article
- Language
- en
- Open access
- green
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- Itan, Y., Shang, L., Boisson, B., Patin, E., Bolze, A., Moncada-Vélez, M., Scott, E., Ciancanelli, M. J., Lafaille, F. G., Markle, J. G., Martinez-Barricarte, R., de Jong, S. J., Kong, X.-F., Nitschke, P., Belkadi, A., Bustamante, J., Puel, A., Boisson-Dupuis, S., Stenson, P. D., . . . Casanova, J.-L. (2015). The human gene damage index as a gene-level approach to prioritizing exome variants. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1518646112
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