Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Autor: Arthur Gilly, Daniel Suveges, Karoline Kuchenbaecker, Martin Pollard, Lorraine Southam, Konstantinos Hatzikotoulas, Aliki-Eleni Farmaki, Thea Bjornland, Ryan Waples, Emil V. R. Appel, Elisabetta Casalone, Giorgio Melloni, Britt Kilian, Nigel W. Rayner, Ioanna Ntalla, Kousik Kundu, Klaudia Walter, John Danesh, Adam Butterworth, Inês Barroso, Emmanouil Tsafantakis, George Dedoussis, Ida Moltke, Eleftheria Zeggini

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)

Rare genetic variants can contribute to complex traits but this contribution is not well understood. Here, the authors analyse deep whole genome sequencing data across 1457 individuals from an isolated Greek population and find association of rare va

Externí odkaz: https://doaj.org/article/21e7f8a5a81c4b47a35814b4882daaea

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

Autor: Richard A. Jensen, Denis Rybin, Jaakko Tuomilehto, Reedik Mägi, Inga Prokopenko, Jeffrey R. O'Connell, Marcus E. Kleber, Han Chen, Geoffrey A. Walford, Allan Linnenberg, Anke Tönjes, Francis S. Collins, Sonsoles Morcillo, Gemma Rojo-Martínez, Kenneth Rice, Jose C. Florez, Leif Groop, Manuel Serrano-Ríos, Josée Dupuis, Alisa K. Manning, Peter Kovacs, Torben Jørgensen, Graciela E. Delgado, Alena Stančáková, Hans-Ulrich Häring, Claudia Langenberg, Joshua P. Lewis, Norbert Stefan, Markku Laakso, Torben Hansen, Bruce M. Psaty, Jian'an Luan, Michael Stumvoll, Mark O. Goodarzi, Robert A. Scott, Oluf Pedersen, Ching-Ti Liu, Michael N. Weedon, Michael Boehnke, Ulf Smith, David S. Siscovick, Aaron Leong, Weijia Xie, James B. Meigs, Claes Landenvall, Anne U. Jackson, Joseph M. Zmuda, Mary L. Biggs, Jerome I. Rotter, Federico Soriguer, Winfried März, Zhongyang Zhang, May E. Montasser, Arturo Corbatón-Anchuelo, J M Gómez-Zumaquero, Günther Silbernagel, Kristine Færch, Karen L. Mohlke, Heikki A. Koistinen, Yii-Der Ida Chen, Jaeyoung Hong, Gracia María Martín-Núñez, María Teresa Martínez-Larrad, Emil V. R. Appel, Niels Grarup, Harald Staiger, Johanna Kuusisto, Lars Lind, Nicholas J. Wareham, Andreas Fritsche, Stefan Gustafsson, Andrew P. Morris, Richard N. Bergman, Mark Walker, Cecilia M. Lindgren, Erik Ingelsson, Jorge R. Kizer, Timothy M. Frayling, Fausto Machicao

Publikováno v: Diabetes
Walford, G A, Gustafsson, S, Rybin, D, Stančáková, A, Chen, H, Liu, C-T, Hong, J, Jensen, R A, Rice, K, Morris, A P, Mägi, R, Tönjes, A, Prokopenko, I, Kleber, M E, Delgado, G, Silbernagel, G, Jackson, A U, Appel, E V, Grarup, N, Lewis, J P, Montasser, M E, Landenvall, C, Staiger, H, Luan, J, Frayling, T M, Weedon, M N, Xie, W, Morcillo, S, Martínez-Larrad, M T, Biggs, M L, Ida Chen, Y-D, Corbaton-Anchuelo, A, Færch, K, Zumaquero, J M, Goodarzi, M O, Kizer, J, Koistinen, H A, Leong, A, Lind, L, Lindgren, C, Machicao, F, Manning, A K, Martín-Núñez, G M, Rojo-Martínez, G, Rotter, J I, Siscovick, D S, Zmuda, J M, Zhang, Z, Serrano-Rios, M, Smith, U, Soriguer, F, Hansen, T, Jørgensen, T J, Linnenberg, A, Pedersen, O, Walker, M, Langenberg, C, Scott, R A, Wareham, N J, Fritsche, A, Häring, H-U, Stefan, N, Groop, L, O'Connell, J R, Boehnke, M, Bergman, R N, Collins, F S, Mohlke, K L, Tuomilehto, J, März, W, Kovacs, P, Stumvoll, M, Psaty, B M, Kuusisto, J, Laakso, M, Meigs, J B, Dupuis, J, Ingelsson, E & Florez, J C 2016, ' Genome-wide association study of the modified Stumvoll Insulin Sensitivity Index identifies BCL2 and FAM19A2 as novel insulin sensitivity loci ', Diabetes, vol. 65, no. 10, pp. 3200-3211 . https://doi.org/10.2337/db16-0199
DIABETES

Genome-wide association studies (GWAS) have found few common variants that influence fasting measures of insulin sensitivity. We hypothesized that a GWAS of an integrated assessment of fasting and dynamic measures of insulin sensitivity would detect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb835e572112710c128ad103623be68

Nutritional Considerations in Lung Cancer Rehabilitation

Autor: Monica Diaz, Dominique Symonette, Haley R. Appel, Adrian Cristian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::69bf4a749a01f0ccf9c17f1a42745008
https://doi.org/10.1016/b978-0-323-83404-9.00021-9

Hypertension genetic risk score is associated with burden of coronary heart disease among patients referred for coronary angiography.

Autor: Maria Lukács Krogager, Regitze Kuhr Skals, Emil Vincent R Appel, Theresia M Schnurr, Line Engelbrechtsen, Christian Theil Have, Oluf Pedersen, Thomas Engstrøm, Dan M Roden, Gunnar Gislason, Henrik Enghusen Poulsen, Lars Køber, Steen Stender, Torben Hansen, Niels Grarup, Charlotte Andersson, Christian Torp-Pedersen, Peter E Weeke

Publikováno v: PLoS ONE, Vol 13, Iss 12, p e0208645 (2018)

BACKGROUND:Recent GWAS studies have identified more than 300 SNPs associated with variation in blood pressure. We investigated whether a genetic risk score constructed from these variants is associated with burden of coronary heart disease. METHODS:F

Externí odkaz: https://doaj.org/article/dcfd2b8b794a410c91597c91245eb2f1

Christopher Simpsons Systematik der Divisionsverfahren (1667)

Autor: Bernhard R. Appel

Publikováno v: Die Musikforschung. 35:223-234

Der von Christopher Simpson (nach 1604-1669) verfaste und 1667 in London veroffentlichte Traktat The DivisionViol1, der neben technischen Anweisungen zum Gambenspiel auch einen Abris des Kontrapunkts enthalt, erlangte insbesondere durch seinen dritte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc0ae965bcec07f827ac7b894dc0921c
https://doi.org/10.52412/mf.1982.h3.1601