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Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

Palamara, Pier Francesco, Francioli, Laurent C, Wilton, Peter R, Genovese, Giulio, Gusev, Alexander, Finucane, Hilary K, Sankararaman, Sriram, Consortium, Genome of the Netherlands, Sunyaev, Shamil R, de Bakker, Paul IW, Wakeley, John, Pe’er, Itsik, Price, Alkes L
Veröffentlicht in: American Journal of Human Genetics, vol 97, iss 6;
2015

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Negative selection in humans and fruit flies involves synergistic epistasis

Sohail, Mashaal, Vakhrusheva, Olga A, Sul, Jae Hoon, Pulit, Sara L, Francioli, Laurent C, van den Berg, Leonard H, Veldink, Jan H, de Bakker, Paul I W, Bazykin, Georgii A, Kondrashov, Alexey S, Sunyaev, Shamil R, Abdellaoui, A., Hottenga, J.J., Willemsen, Gonneke, Boomsma, D.I.
Veröffentlicht in: Sohail , M , Vakhrusheva , O A , Sul , J H , Pulit , S L , Francioli , L C , van den Berg , L H , Veldink , J H , de Bakker , P I W , Bazykin , G A , Kondrashov , A S , Sunyaev , S R , Genome of the Netherlands Consortium , Abdellaoui , A , Hottenga , J J , Willemsen , G & Boomsma , D I 2017 , ' Negative selection in humans and fruit flies involves synergistic epistasis ' , Science , vol. 356 , no. 6337 , pp. 539-542 . https://doi.org/10.1126/science.aah5238;
2017

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Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’

Deelen, Patrick, Menelaou, Androniki, van Leeuwen, Elisabeth M, Kanterakis, Alexandros, van Dijk, Freerk, Medina-Gomez, Carolina, Francioli, Laurent C, Hottenga, Jouke Jan, Karssen, Lennart C, Estrada, Karol, Kreiner-Møller, Eskil, Rivadeneira, Fernando, van Setten, Jessica, Gutierrez-Achury, Javier, Westra, Harm-Jan, Franke, Lude, van Enckevort, David, Dijkstra, Martijn, Byelas, Heorhiy, van Duijn, Cornelia M, de Bakker, Paul I W, Wijmenga, Cisca, Swertz, Morris A
Veröffentlicht in: European Journal of Human Genetics ; volume 22, issue 11, page 1321-1326 ; ISSN 1018-4813 1476-5438;
2014

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Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'

Deelen, Patrick, Menelaou, Androniki, van Leeuwen, Elisabeth M., Kanterakis, Alexandros, van Dijk, Freerk, Medina-Gomez, Carolina, Francioli, Laurent C., Hottenga, Jouke Jan, Karssen, Lennart C., Estrada, Karol, Kreiner-Moller, Eskil, Rivadeneira, Fernando, van Setten, Jessica, Gutierrez-Achury, Javier, Westra, Harm-Jan, Franke, Lude, van Enckevort, David, Dijkstra, Martijn, Byelas, Heorhiy, van Duijn, Cornelia M., de Bakker, Paul I. W., Wijmenga, Cisca, Swertz, Morris A.
Veröffentlicht in: Deelen , P , Menelaou , A , van Leeuwen , E M , Kanterakis , A , van Dijk , F , Medina-Gomez , C , Francioli , L C , Hottenga , J J , Karssen , L C , Estrada , K , Kreiner-Moller , E , Rivadeneira , F , van Setten , J , Gutierrez-Achury , J , Westra , H-J , Franke , L , van Enckevort , D , Dijkstra , M , Byelas , H , van Duijn , C M , de Bakker , P I W , Wijmenga , C , Swertz , M A & Genome Netherlands Consortium 2014 , ' Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands' ' , European Journal of Human Genetics , vol. 22 , no. 11 , pp. 1321-1326 . https://doi.org/10.1038/ejhg.2014.19;
2014

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A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Hehir-Kwa, Jayne Y, Marschall, Tobias, Kloosterman, Wigard P, Francioli, Laurent C, Baaijens, Jasmijn A, Dijkstra, Louis J, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P, Deelen, Patrick, de Ligt, Joep, Lameijer, Eric-Wubbo, van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G, van Duijn, Cornelia M, Eichler, Evan E, de Bakker, Paul IW, Swertz, Morris A, Wijmenga, Cisca, van Ommen, Gert-Jan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Ye, Kai, Guryev, Victor
Veröffentlicht in: Nature Communications, vol 7, iss 1;
2016

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Characteristics of de novo structural changes in the human genome

Kloosterman, Wigard P, Francioli, Laurent C, Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y, Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H, Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J, Arp, Pascal, Karssen, Lennart C, Coe, Bradley P, Handsaker, Robert E, Suchiman, Eka D, Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C, Consortium, Genome of the Netherlands, Uitterlinden, André, van Duijn, Cornelia M, Swertz, Morris A, Wijmenga, Cisca, van Ommen, GertJan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Eichler, Evan E, de Bakker, Paul IW, Ye, Kai, Guryev, Victor
Veröffentlicht in: Genome Research, vol 25, iss 6;
2015

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WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

Nersisyan, Lilit, Nikoghosyan, Maria, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Elbers, Clara C., Kloosterman, Wigard P., van Setten, Jessica, Nijman, Isaäc J., Renkens, Ivo, de Bakker, Paul I. W., van Dijk, Freerk, Neerincx, Pieter B. T., Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, Heorhiy, van der Velde, K. Joeri, Platteel, Mathieu, Swertz, Morris A., Wijmenga, Cisca, Palamara, Pier Francesco, Pe’er, Itsik, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H., Beekman, Marian, de Craen, Anton J. M., Suchiman, H. Eka D., Slagboom, P. Eline, Guryev, Victor, Abdellaoui, Abdel, Jan Hottenga, Jouke, Kattenberg, Mathijs, Willemsen, Gonneke, Boomsma, Dorret I., van Leeuwen, Elisabeth M., Karssen, Lennart C., Amin, Najaf, Rivadeneira, Fernando, Isaacs, Aaron, Hofman, Albert, Uitterlinden, André G., van Duijn, Cornelia M., van Oven, Mannis, Kayser, Manfred, Vermaat, Martijn, Laros, Jeroen F. J., den Dunnen, Johan T.
Veröffentlicht in: Scientific Reports ; volume 9, issue 1 ; ISSN 2045-2322;
2019

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The Genome of the Netherlands: design, and project goals

Boomsma, Dorret I, Wijmenga, Cisca, Slagboom, Eline P, Swertz, Morris A, Karssen, Lennart C, Abdellaoui, Abdel, Ye, Kai, Guryev, Victor, Vermaat, Martijn, van Dijk, Freerk, Francioli, Laurent C, Hottenga, Jouke Jan, Laros, Jeroen F J, Li, Qibin, Li, Yingrui, Cao, Hongzhi, Chen, Ruoyan, Du, Yuanping, Li, Ning, Cao, Sujie, van Setten, Jessica, Menelaou, Androniki, Pulit, Sara L, Hehir-Kwa, Jayne Y, Beekman, Marian, Elbers, Clara C, Byelas, Heorhiy, de Craen, Anton J M, Deelen, Patrick, Dijkstra, Martijn, den Dunnen, Johan T, de Knijff, Peter, Houwing-Duistermaat, Jeanine, Koval, Vyacheslav, Estrada, Karol, Hofman, Albert, Kanterakis, Alexandros, Enckevort, David van, Mai, Hailiang, Kattenberg, Mathijs, van Leeuwen, Elisabeth M, Neerincx, Pieter B T, Oostra, Ben, Rivadeneira, Fernanodo, Suchiman, Eka H D, Uitterlinden, Andre G, Willemsen, Gonneke, Wolffenbuttel, Bruce H, Wang, Jun, de Bakker, Paul I W
Veröffentlicht in: European Journal of Human Genetics ; volume 22, issue 2, page 221-227 ; ISSN 1018-4813 1476-5438;
2013

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Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

van Leeuwen, Elisabeth M, Karssen, Lennart C, Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, van Enckevort, David J, Huffman, Jennifer E, White, Charles C, Feitosa, Mary F, Bartz, Traci M, Manichaikul, Ani, Joshi, Peter K, Peloso, Gina M, Deelen, Patrick, van Dijk, Freerk, Willemsen, Gonneke, de Geus, Eco J, Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C, Menelaou, Androniki, Pulit, Sara L, Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A, Franco, Oscar H, Mateo Leach, Irene, Beekman, Marian, de Craen, Anton J M, Uh, Hae-Won, Trochet, Holly, Hocking, Lynne, Porteous, David J, Sattar, Naveed, Packard, Chris J, Buckley, Brendan M, Brody, Jennifer A, Bis, Joshua C, Rotter, Jerome I, Mychaleckyj, Josyf C, Campbell, Harry, Duan, Qing, Lange, Leslie A, Wilson, James F, Hayward, Caroline, Genome of the Netherlands Consortium
2015

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Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

van Leeuwen, Elisabeth M, Karssen, Lennart C, Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, van Enckevort, David J, Huffman, Jennifer E, White, Charles C, Feitosa, Mary F, Bartz, Traci M, Manichaikul, Ani, Joshi, Peter K, Peloso, Gina M, Deelen, Patrick, van Dijk, Freerk, Willemsen, Gonneke, de Geus, Eco J, Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C, Menelaou, Androniki, Pulit, Sara L, Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A, Franco, Oscar H, Mateo Leach, Irene, Beekman, Marian, de Craen, Anton J M, Uh, Hae-Won, Trochet, Holly, Hocking, Lynne J, Porteous, David J, Sattar, Naveed, Packard, Chris J, Buckley, Brendan M, Brody, Jennifer A, Bis, Joshua C, Rotter, Jerome I, Mychaleckyj, Josyf C, Campbell, Harry, Duan, Qing, Lange, Leslie A, Wilson, James F, Hayward, Caroline, van Duijn, C.
Veröffentlicht in: van Leeuwen , E M , Karssen , L C , Deelen , J , Isaacs , A , Medina-Gomez , C , Mbarek , H , Kanterakis , A , Trompet , S , Postmus , I , Verweij , N , van Enckevort , D J , Huffman , J E , White , C C , Feitosa , M F , Bartz , T M , Manichaikul , A , Joshi , P K , Peloso , G M , Deelen , P , van Dijk , F , Willemsen , G , de Geus , E J , Milaneschi , Y , Penninx , B W J H , Francioli , L C , Menelaou , A , Pulit , S L , Rivadeneira , F , Hofman , A , Oostra , B A , Franco , O H , Mateo Leach , I , Beekman , M , de Craen , A J M , Uh , H-W , Trochet , H , Hocking , L J , Porteous , D J , Sattar , N , Packard , C J , Buckley , B M , Brody , J A , Bis , J C , Rotter , J I , Mychaleckyj , J C , Campbell , H , Duan , Q , Lange , L A , Wilson , J F , Hayward , C , Genome of the Netherlands Consortium & van Duijn , C 2015 , ' Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels ' , Nature Communications , vol. 6 , pp. 6065 . https://doi.org/10.1038/ncomms7065;
2015