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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Autor: Jansen, Iris E, Ye, Hui, Gibbs, J Raphael, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lungu, Codrin, Nalls, Mike A, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Escott-Price, Valentina, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Ryten, Mina, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Sawcer, Stephen, Botia, Juan A, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Vandrovcova, Jana, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Simon Sanchez, Javier, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W, Castillo Lizardo, Melissa Gissel, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K, Heetveld, Sasja, Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M, Consortium, International Parkinson’s Disease Genetics, David, Della C, Nollen, Ellen A, Lechler, Marie C, Jain, Shushant, Shulman, Joshua M, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, SimónSánchez, Javier, Schulte, Claudia, Michels, Helen, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Seinstra, Renée I, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Majounie, Elisa, Lubbe, Steven, Price, Ryan, Lubbe, Steven J, Nicolas, Aude, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Drouet, Valérie, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna

Publikováno v: Genome Biology, 18:22
Genome Biology, 18, 1, pp. 22
Genome Biology, 18(22). BMC
Jansen, I E, Ye, H, Heetveld, S, Lechler, M C, Michels, H, Seinstra, R I, Lubbe, S J, Drouet, V, Lesage, S, Majounie, E, Gibbs, J R, Nalls, M A, Ryten, M, Botia, J A, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, A K, Li, Y, Yogi, P, Amin, N, van Duijn, C M, (IPGDC), I P D G C, Morris, H R, Brice, A, David, D C, Singleton, A B, Nollen, E A, Jain, S, Shulman, J M, Heutink, P, Burn, D J, Walker, R & Morrison, K 2017, ' Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing ', Genome biology, vol. 18, no. 22, pp. 1-26 . https://doi.org/10.1186/s13059-017-1147-9
Genome Biology
Jansen, I E, Ye, H, Heetveld, S, Lechler, M C, Michels, H, Seinstra, R I, Lubbe, S, Drouet, V, Lesage, S, Majounie, E, Gibbs, J R, Nalls, M A, Ryten, M, Botia, J A, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, A K, Li, Y, Yogi, P, Amin, N, van Duijn, C M, Morris, H R, Brice, A, Singleton, A B, David, D C, Nollen, E A, Jain, S, Shulman, J M, Heutink, P & International Parkinson's Disease Genetics Consortium (IPGDC) 2017, ' Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing ', Genome Biology, vol. 18, no. 1, 22 . https://doi.org/10.1186/s13059-017-1147-9
Genome Biology, 18
Genome biology 18(1), 22 (2017). doi:10.1186/s13059-017-1147-9
Genome Biology, 18, 22
Genome Biology, 18(1):22. BioMed Central Ltd.
Genome biology, 18(1):22. BioMed Central
Jansen, I E, Ye, H, Heetveld, S, Lechler, M C, Michels, H, Seinstra, R I, Lubbe, S J, Drouet, V, Lesage, S, Majounie, E, Gibbs, J R, Nalls, M A, Ryten, M, Botia, J A, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, A K, Li, Y, Yogi, P, Amin, N, van Duijn, C M, Morris, H R, Brice, A, Singleton, A B, David, D C, Nollen, E A, Jain, S, Shulman, J M, Heutink, P, Hernandez, D G, Arepalli, S, Brooks, J, Price, R, Nicolas, A, Chong, S, Cookson, M R, Dillman, A, Moore, M, Traynor, B J, Singleton, A B, Plagnol, V, Nicholas W Wood, W W, Sheerin, U M, Jose M Bras, M B, Charlesworth, G, Gardner, M, Guerreiro, R, Trabzuni, D, Hardy, J, Sharma, M, Saad, M, Javier Simón-Sánchez, S-S, Schulte, C, Corvol, J C, Dürr, A, Vidailhet, M, Sveinbjörnsdóttir, S, Barker, R, Caroline H Williams-Gray, H W-G, Ben-Shlomo, Y, Berendse, H W, van Dijk, K D, Berg, D, Brockmann, K, Wurster, I, Mätzler, W, Gasser, T, Martinez, M, de Bie, R M A, Biffi, A, Velseboer, D, Bloem, B, Post, B, Wickremaratchi, M, van de Warrenburg, B, Bochdanovits, Z, Bonin, M, Pétursson, H, Riess, O, Burn, D J, Lubbe, S, Cooper, J M, McNeill, A, Schapira, A, Lungu, C, Chen, H, Dong, J, Chinnery, P F, Hudson, G, Clarke, C E, Moorby, C, Counsell, C, Damier, P, Dartigues, J F, Deloukas, P, Edkins, S, Hunt, S E, Tashakkori-Ghanbaria, A, Deuschl, G, Lorenz, D, Dexter, D T, Durif, F, Evans, J R, Langford, C, Foltynie, T, Goate, A, Harris, C, van Hilten, J J, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, X, Illig, T, Jónsson, P V, Lambert, J C, O'Sullivan, S S, Revesz, T, Shaw, K, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Escott-Price, V, Pearson, J, Williams, N, Mudanohwo, E, Perlmutter, J S, Pollak, P, Rivadeneira, F, Uitterlinden, A G, Sawcer, S, Scheffer, H, Shoulson, I, Shulman, J, Smith, C, Walker, R, Spencer, C C A, Strange, A, Stefánsson, H, Bettella, F, Stefánsson, K, Stockton, J D, Talbot, K, Tanner, C M, Tison, F, Winder-Rhodes, S & Bhatia, K 2017, ' Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing ', Genome Biology, vol. 18, no. 1, 22 . https://doi.org/10.1186/s13059-017-1147-9

Background Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson’s disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c42a710738d9cbe1ee9c6b9ed4f6a6b
https://pure.eur.nl/en/publications/63c9bb9a-9584-428c-9489-1bbc459ac75d

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