Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

Autor: Li, Mingkun, Rothwell, Rebecca, Vermaat, Martijn, Wachsmuth, Manja, Schröder, Roland, Laros, Jeroen F J, Van Oven, Mannis, De Bakker, Paul I W, Bovenberg, Jasper A., Van Duijn, Cornelia M., Van Ommen, Gert Jan B, Slagboom, P. Eline, Swertz, Morris A., Wijmenga, Cisca, Kayser, Manfred, Boomsma, Dorret I., Zöllner, Sebastian, De Knijff, Peter, Stoneking, Mark, De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Den Dunnen, Johan T., Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor

Publikováno v: Li, M, Rothwell, R, Vermaat, M, Wachsmuth, M, Schröder, R, Laros, J F J, van Oven, M, Bakker, P I W, Bovenberg, J A, van Duijn, C M, van Ommen, G J B, Slagboom, P E, Swertz, M A, Wijmenga, C, Kayser, M, Boomsma, D I, Zöllner, S, de Knijff, P & Stoneking, M 2016, ' Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck ', Genome Research, vol. 26, no. 4, pp. 417-426 . https://doi.org/10.1101/gr.203216.115
Genome Research, 26(4), 417-426
Genome Research, 26(4), 417-426. Cold Spring Harbor Laboratory Press
Genome Research, 26(4), 417-426. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
Genome Research, 26(4), 417. Cold Spring Harbor Laboratory Press

Although previous studies have documented a bottleneck in the transmission of mtDNA genomes from mothers to offspring, several aspects remain unclear, including the size and nature of the bottleneck. Here, we analyze the dynamics of mtDNA heteroplasm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34488ab6e37c92f6acc40434706a049a
https://doi.org/10.1101/gr.203216.115

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Characteristics of de novo structural changes in the human genome

Autor: 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., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J.

Publikováno v: Genome research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Genome Research, 25, 6, pp. 792-801
Genome Research, 25(6), 792-801
Genome Research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Kloosterman, W P, Francioli, L C, Hormozdiari, F, Marschall, T, Hehir-Kwa, J Y, Abdellaoui, A, Lameijer, E W, Moed, M H, Koval, V, Renkens, I, van Roosmalen, M J, Arp, P, Karssen, L C, Coe, B P, Handsaker, R E, Suchiman, H E D, Cuppen, E, Tjwan Thung, D, McVey, M, Wendl, M C, Uitterlinden, A G, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Eichler, E E, Bakker, P I W, Ye, K & Guryev, V 2015, ' Characteristics of de novo structural changes in the human genome ', Genome Research, vol. 25, no. 6, pp. 792-801 . https://doi.org/10.1101/gr.185041.114
Genome Research, 25(6), 792. Cold Spring Harbor Laboratory Press
Genome research, vol 25, iss 6
Genome Research, 25, 792-801
Genome Research, 25(6), 792-801. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT

Contains fulltext : 154750.pdf (Publisher’s version ) (Open Access) Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9251dc3de0257e9c1afade755cd46fdf
https://pure.amc.nl/en/publications/characteristics-of-de-novo-structural-changes-in-the-human-genome(195fa0c7-190d-4ec8-902c-47dd8d184f40).html

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

Autor: Silva, Claudia Tamar, Zorkoltseva, Irina V., Niemeijer, Maartje N., van den Berg, Marten E., Amin, Najaf, Demirkan, Ayşe, van Leeuwen, Elisa, Iglesias, Adriana I., Piñeros-Hernández, Laura B., Restrepo, Carlos M., Kors, Jan A., Kirichenko, Anatoly V., Willemsen, Rob, Oostra, Ben A., Stricker, Bruno H., Uitterlinden, André G., Axenovich, Tatiana I., van Duijn, Cornelia M., Isaacs, Aaron

Publikováno v: BMC Medical Genomics; 3/5/2018, Vol. 11, p1-1, 1p