التفاصيل البيبلوغرافية
| العنوان: |
Genetic effects on gene expression across human tissues |
| المؤلفون: |
Aguet, F, Brown, AA, Castel, SE, Davis, JR, He, Y, Jo, B, Mohammadi, P, Park, Y, Parsana, P, Segre, AV, Strober, BJ, Zappala, Z, Cummings, BB, Gelfand, ET, Hadley, K, Huang, KH, Lek, M, Li, X, Nedzel, JL, Nguyen, DY, Noble, MS, Sullivan, TJ, Tukiainen, T, MacArthur, DG, Getz, G, Management, NP, Addington, A, Guan, P, Koester, S, Little, AR, Lockhart, NC, Moore, HM, Rao, A, Struewing, JP, Volpi, S, Collection, B, Brigham, LE, Hasz, R, Hunter, M, Johns, C, Johnson, M, Kopen, G, Leinweber, WF, Lonsdale, JT, McDonald, A, Mestichelli, B, Myer, K, Roe, B, Salvatore, M, Shad, S, Thomas, JA, Walters, G, Washington, M, Wheeler, J, Bridge, J, Foster, BA, Gillard, BM, Karasik, E, Kumar, R, Miklos, M, Moser, MT, Jewell, SD, Montroy, RG, Rohrer, DC, Valley, D, Mash, DC, Davis, DA, Sobin, L, Barcus, ME, Branton, PA, Grp, EMW, Abell, NS, Balliu, B, Delaneau, O, Fresard, L, Gamazon, ER, Garrido-Martin, D, Gewirtz, ADH, Gliner, G, Gloudemans, MJ, Han, B, He, AZ, Hormozdiari, F, Liu, B, Kang, EY, McDowell, IC, Ongen, H, Palowitch, JJ, Peterson, CB, Quon, G, Ripke, S, Saha, A, Shabalin, AA, Shimko, TC, Sul, JH, Teran, NA, Tsang, EK, Zhang, H, Zhou, Y-H, Bustamante, CD, Cox, NJ, Guigo, R, Kellis, M, McCarthy, MI, Conrad, DF, Eskin, E, Li, G, Nobel, AB, Sabatti, C, Stranger, BE, Wen, X, Wright, FA, Ardlie, KG, Dermitzakis, ET, Lappalainen, T, Battle, A, Brown, CD, Engelhardt, BE, Montgomery, SB, Handsaker, RE, Kashin, S, Karczewski, KJ, Nguyen, DT, Trowbridge, CA, Barshir, R, Basha, O, Bogu, GK, Brown, A, Chen, LS, Chiang, C, Damani, FN, Ferreira, PG, Hall, IM, Howald, C, Im, HK, Kim, Y, Kim-Hellmuth, S, Mangul, S, Monlong, J, Munoz-Aguirre, M, Ndungu, AW, Nicolae, DL, Oliva, M, Panousis, N, Papasaikas, P, Payne, AJ, Quan, J, Reverter, F, Sammeth, M, Scott, AJ, Sodaei, R, Stephens, M, Urbut, S, De Bunt, MV, Wang, G, Xi, HS, Yeger-Lotem, E, Zaugg, JB, Akey, JM, Bates, D, Chan, J, Claussnitzer, M, Demanelis, K, Diegel, M, Doherty, JA, Feinberg, AP, Fernando, MS, Halow, J, Hansen, KD, Haugen, E, Hickey, PF, Hou, L, Jasmine, F, Jian, R, Jiang, L, Johnson, A, Kaul, R, Kibriya, MG, Lee, K, Li, JB, Li, Q, Lin, J, Lin, S, Linder, S, Linke, C, Liu, Y, Maurano, MT, Molinie, B, Nelson, J, Neri, FJ, Pierce, BL, Rinaldi, NJ, Rizzardi, LF, Sandstrom, R, Skol, A, Smith, KS, Snyder, MP, Stamatoyannopoulos, J, Tang, H, Wang, L, Wang, M, Van Wittenberghe, N, Wu, F, Zhang, R, Fund, NC, Nierras, CR, Nci, N, Carithers, LJ, Vaught, JB, Nhgri, N, Gould, SE, Lockart, NC, Martin, C, Nimh, N, Addington, AM, Koester, SE, Nida, N, Valley, DR, Undale, AH, Smith, AM, Tabor, DE, Roche, NV, McLean, JA, Vatanian, N, Robinson, KL, Valentino, KM, Qi, L, Hunter, S, Hariharan, P, Singh, S, Um, KS, Matose, T, Tomaszewski, MM, Study, E, Barker, LK, Mosavel, M, Siminoff, LA, Traino, HM, Flicek, P, Juettemann, T, Ruffier, M, Sheppard, D, Taylor, K, Trevanion, SJ, Zerbino, DR, Craft, B, Goldman, M, Haeussler, M, Kent, WJ, Lee, CM, Paten, B, Rosenbloom, KR, Vivian, J, Zhu, J |
| بيانات النشر: |
NATURE PORTFOLIO |
| سنة النشر: |
2017 |
| المجموعة: |
The University of Melbourne: Digital Repository |
| الوصف: |
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| تدمد: |
0028-0836
1476-4687 |
| العلاقة: |
pii: nature24277; Aguet, F., Brown, A. A., Castel, S. E., Davis, J. R., He, Y., Jo, B., Mohammadi, P., Park, Y., Parsana, P., Segre, A. V., Strober, B. J., Zappala, Z., Cummings, B. B., Gelfand, E. T., Hadley, K., Huang, K. H., Lek, M., Li, X., Nedzel, J. L. ,. Zhu, J. (2017). Genetic effects on gene expression across human tissues. NATURE, 550 (7675), pp.204-+. https://doi.org/10.1038/nature24277Test.; http://hdl.handle.net/11343/307525Test |
| الإتاحة: |
https://doi.org/10.1038/nature24277Test
http://hdl.handle.net/11343/307525Test |
| حقوق: |
CC BY ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: |
edsbas.7C7CB8B3 |
| قاعدة البيانات: |
BASE |
