Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 2 of 2 entries
Sorted by: Best Match Show Resources per page
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.

Nature neuroscience

Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM.
PMID: 27694993
Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 03.

Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly...

Cite
Ganna A, Genovese G, Howrigan DP, et al. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci. 2016;19(12):1563-1565doi: 10.1038/nn.4404.
Ganna, A., Genovese, G., Howrigan, D. P., Byrnes, A., Kurki, M., Zekavat, S. M., Whelan, C. W., Kals, M., Nivard, M. G., Bloemendal, A., Bloom, J. M., Goldstein, J. I., Poterba, T., Seed, C., Handsaker, R. E., Natarajan, P., Mägi, R., Gage, D., Robinson, E. B., Metspalu, A., Salomaa, V., Suvisaari, J., Purcell, S. M., Sklar, P., Kathiresan, S., Daly, M. J., McCarroll, S. A., Sullivan, P. F., Palotie, A., Esko, T., Hultman, C., & Neale, B. M. (2016). Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nature neuroscience, 19(12), 1563-1565. https://doi.org/10.1038/nn.4404
Ganna, Andrea, et al. "Ultra-rare disruptive and damaging mutations influence educational attainment in the general population." Nature neuroscience vol. 19,12 (2016): 1563-1565. doi: https://doi.org/10.1038/nn.4404
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 03. PMID: 27694993; PMCID: PMC5127781.
Copy Download .nbib Format: NLM
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.

Nature communications

Regier AA, Farjoun Y, Larson DE, Krasheninina O, Kang HM, Howrigan DP, Chen BJ, Kher M, Banks E, Ames DC, English AC, Li H, Xing J, Zhang Y, Matise T, Abecasis GR, Salerno W, Zody MC, Neale BM, Hall IM.
PMID: 30279509
Nat Commun. 2018 Oct 02;9(1):4038. doi: 10.1038/s41467-018-06159-4.

Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases sample size and statistical power. A...

Cite
Regier AA, Farjoun Y, Larson DE, et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018;9(1):4038doi: 10.1038/s41467-018-06159-4.
Regier, A. A., Farjoun, Y., Larson, D. E., Krasheninina, O., Kang, H. M., Howrigan, D. P., Chen, B. J., Kher, M., Banks, E., Ames, D. C., English, A. C., Li, H., Xing, J., Zhang, Y., Matise, T., Abecasis, G. R., Salerno, W., Zody, M. C., Neale, B. M., & Hall, I. M. (2018). Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nature communications, 9(1), 4038. https://doi.org/10.1038/s41467-018-06159-4
Regier, Allison A, et al. "Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects." Nature communications vol. 9,1 (2018): 4038. doi: https://doi.org/10.1038/s41467-018-06159-4
Regier AA, Farjoun Y, Larson DE, Krasheninina O, Kang HM, Howrigan DP, Chen BJ, Kher M, Banks E, Ames DC, English AC, Li H, Xing J, Zhang Y, Matise T, Abecasis GR, Salerno W, Zody MC, Neale BM, Hall IM. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018 Oct 02;9(1):4038. doi: 10.1038/s41467-018-06159-4. PMID: 30279509; PMCID: PMC6168605.
Copy Download .nbib Format: NLM
Showing 1 to 2 of 2 entries