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Publication Details

Results for Satterstrom2020:

Summary
Title Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
AuthorsSatterstrom, F.K., Kosmicki, J.A., Wang, J., Breen, M.S., Rubeis, S.D., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M.S., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., Schwartz, G., Nguyen, R., Guerrero, E.E., Dias, C., Aleksic, B., Anney, R., Barbosa, M., Bishop, S., Brusco, A., Bybjerg-Grauholm, J., Carracedo, A., Chan, M.C.Y., Chiocchetti, A.G., Chung, B.H.Y., Coon, H., Cuccaro, M.L., Curró, A., Bernardina, B.D., Doan, R., Domenici, E., Dong, S., Fallerini, C., Fernández-Prieto, M., Ferrero, G.B., Freitag, C.M., Fromer, M., Gargus, J.J., Geschwind, D., Giorgio, E., González-Peñas, J., Guter, S., Halpern, D., Hansen-Kiss, E., He, X., Herman, G.E., Hertz-Picciotto, I., Hougaard, D.M., Hultman, C.M., Ionita-Laza, I., Jacob, S., Jamison, J., Jugessur, A., Kaartinen, M., Knudsen, G.P., Kolevzon, A., Kushima, I., Lee, S.L., Lehtimäki, T., Lim, E.T., Lintas, C., Lipkin, W.I., Lopergolo, D., Lopes, F., Ludena, Y., Maciel, P., Magnus, P., Mahjani, B., Maltman, N., Manoach, D.S., Meiri, G., Menashe, I., Miller, J., Minshew, N., Montenegro, E.M.S., Moreira, D., Morrow, E.M., Mors, O., Mortensen, P.B., Mosconi, M., Muglia, P., Neale, B.M., Nordentoft, M., Ozaki, N., Palotie, A., Parellada, M., Passos-Bueno, M.R., Pericak-Vance, M., Persico, A.M., Pessah, I., Puura, K., Reichenberg, A., Renieri, A., Riberi, E., Robinson, E.B., Samocha, K.E., Sandin, S., Santangelo, S.L., Schellenberg, G., Scherer, S.W., Schlitt, S., Schmidt, R., Schmitt, L., Silva, I.M.W., Singh, T., Siper, P.M., Smith, M., Soares, G., Stoltenberg, C., Suren, P., Susser, E., Sweeney, J., Szatmari, P., Tang, L., Tassone, F., Teufel, K., Trabetti, E., Trelles, M. del P., Walsh, C.A., Weiss, L.A., Werge, T., Werling, D.M., Wigdor, E.M., Wilkinson, E., Willsey, A.J., Yu, T.W., Yu, M.H.C., Yuen, R., Zachi, E., Agerbo, E., Als, T.D., Appadurai, V., Bækvad-Hansen, M., Belliveau, R., Buil, A., Carey, C.E., Cerrato, F., Chambert, K., Churchhouse, C., Dalsgaard, S., Demontis, D., Dumont, A., Goldstein, J., Hansen, C.S., Hauberg, M.E., Hollegaard, M.V., Howrigan, D.P., Huang, H., Maller, J., Martin, A.R., Martin, J., Mattheisen, M., Moran, J., Pallesen, J., Palmer, D.S., Pedersen, C.B., Pedersen, M.G., Poterba, T., Poulsen, J.B., Ripke, S., Schork, A.J., Thompson, W.K., Turley, P., Walters, R.K., Betancur, C., Cook, E.H., Gallagher, L., Gill, M., Sutcliffe, J.S., Thurm, A., Zwick, M.E., Børglum, A.D., State, M.W., Cicek, A.E., Talkowski, M.E., Cutler, D.J., Devlin, B., Sanders, S.J., Roeder, K., Daly, M.J., Buxbaum, J.D.
TechnologyWhole Exome Sequencing
Variant sourceSupplementary Table 1
CohortsAutism Sequencing Consortium (v15 VCF, Neale 2012), Simons Simplex Collection (Dong 2014, Iossifov 2014, Krumm 2015), De Rubeis 2014, Werling 2018
DesignMultiplex/Case-control
URLhttps://dx.doi.org/10.1016/j.cell.2019.12.036
Pubmed31981491
Subject count5298
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count12160
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion326
frameshift insertion158
nonframeshift deletion111
nonframeshift insertion30
nonsynonymous SNV4861
other4196
splicing157
stopgain410
stoploss4
synonymous SNV1844
unknown65

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.