Results 31 to 40 of about 1,253,541 (298)

Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population

International Journal of Bipolar Disorders, 2023
Background Bipolar disorder (BD) and schizophrenia (SZ) are complex psychotic disorders (PSY), with both environmental and genetic factors including possible maternal inheritance playing a role.
Ryobu Tachi, Kazutaka Ohi, Daisuke Nishizawa, Midori Soda, Daisuke Fujikane, Junko Hasegawa, Ayumi Kuramitsu, Kentaro Takai, Yukimasa Muto, Shunsuke Sugiyama, Kiyoyuki Kitaichi, Ryota Hashimoto, Kazutaka Ikeda, Toshiki Shioiri   +13 more
doaj   +1 more source

Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange

Scientific Reports, 2021
Genetic variants causing underlying pharmacogenetic and disease phenotypes have been used as the basis for clinical decision-making. However, due to the lack of standards for next-generation sequencing (NGS) pipelines, reproducing genetic variants among ...
Jeong Hoon Lee, Solbi Kweon, Yu Rang Park   +2 more
doaj   +1 more source

Ethnic differences in adiposity and diabetes risk – insights from genetic studies [PDF]

, 2020
Type 2 diabetes is more common in non-Europeans and starts at a younger age and at lower BMI cut-offs. This review discusses the insights from genetic studies about pathophysiological mechanisms which determine risk of disease with a focus on the role of
Bell, J.D., Bell, J.D., Thomas, E.L., Thomas, E.L., Whitcher, B., Whitcher, B., Yaghootkar, H., Yaghootkar, H.   +7 more
core   +2 more sources

Hundreds of variants clustered in genomic loci and biological pathways affect human height [PDF]

, 2010
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits ...
A Johansson, A Superti-Furga, Aila Rissanen, Aki S. Havulinna, Alan F. Wright, Alan R. Sanders, Alan R. Shuldiner, Albert Hofman, Albert Vernon Smith, Alessandro De Grandi, Alex N. Parker, Alice M. Arnold, Alistair S. Hall, Ana Marusic, Anders Hamsten, Andrea Maschio, Andreas Ziegler, Andres Metspalu, Andrew A. Hicks, Andrew C. Heath, Andrew P. Morris, Andrew R. Wood, Andrew T. Hattersley, André G. Uitterlinden, Anke Tönjes, Anna Dominiczak, Anna L. Dixon, Anna-Liisa Hartikainen, Anne U. Jackson, Anneli Pouta, Anthony J. Balmforth, Antonella Mulas, Antti Jula, Arthur W. Musk, Astrid Petersmann, AV Segrè, Ayellet V. Segrè, B Devlin, Barbara McKnight, Ben Oostra, Benjamin F. Voight, Brenda W. Penninx, Cameron Palmer, Carlo Rivolta, Carlos Iribarren, Caroline Hayward, Caroline S. Fox, Carsten Oliver Schmidt, CD Campbell, Cecilia M. Lindgren, Charles C. White, Christian Gieger, Christian Hengstenberg, Christopher J. O’Donnell, Claes Ohlsson, Constance Chen, Cornelia M. van Duijn, Cristen J. Willer, Dale R. Nyholt, Daniel Gudbjartsson, Daniel I. Chasman, Daniele Cusi, David J. Hunter, David P. Strachan, David S. Siscovick, David Schlessinger, Dawn Waterworth, DB Goldstein, Devin Absher, DF Gudbjartsson, Dominique J. Verlaan, Dorret I. Boomsma, Douglas F. Levinson, Eco J. C. Geus, Eero Kajantie, Eleanor Wheeler, Elin Grundberg, Elisabeth Widen, Elizabeth K. Speliotes, Elizabeth L. Altmaier, EM Kofoed, ER Neptune, Eric Boerwinkle, Eric E. Schadt, Erik Ingelsson, Erika Salvi, Eva Albrecht, F Galton, Fernando Rivadeneira, Florian Ernst, Francis S. Collins, Frank B. Hu, Fredrik Wiklund, G Lettre, G. Bragi Walters, G. Mark Lathrop, Gabrielle Boucher, Gert-Jan van Ommen, Gonneke Willemsen, Gonçalo R. Abecasis, Grant W. Montgomery, Gudmar Thorleifsson, Gudny Eiriksdottir, Guillaume Lettre, Guillaume Paré, H.-Erich Wichmann, Hana Lango Allen, Harry Campbell, Heather M. Stringham, Heikki V. Huikuri, Helene Alavere, Henrik Grönberg, Henry Völzke, Heribert Schunkert, Hugh Watkins, Ida Surakka, Igor Rudan, Inga Prokopenko, Ingrid B. Borecki, Inke R. König, Inês Barroso, Irene Pichler, Iris M. Heid, Ivana Kolcic, J Yang, Jaakko Kaprio, Jaakko Tuomilehto, Jaana Laitinen, Jacques S. Beckmann, James F. Wilson, Jan H. Smit, Jeanette Erdmann, Jeffrey R. O’Connell, Jennie Hui, Jennifer G. Sambrook, Jerome I. Rotter, JH Park, Jian Yang, Jianfeng Xu, Jianjun Liu, Jianxin Shi, Jian’an Luan, Jing Hua Zhao, Joel N. Hirschhorn, Johan G. Eriksson, Johannes Kettunen, John D. Rioux, John F. Peden, John P. Beilby, John R. B. Perry, John R. Thompson, Jonathan P. Tyrer, Jorma Viikari, Joshua C. Randall, Joshua W. Knowles, Jouke-Jan Hottenga, Joyce B. J. van Meurs, Ju-Hyun Park, Jubao Duan, Juha Sinisalo, Julius Suh Ngwa, K Estrada, KA Frazer, Karen L. Mohlke, Kari E. North, Kari Stefansson, Karol Estrada, Katja K. Aben, Ke Hao, Ken Sin Lo, Keri L. Monda, Kevin B. Jacobs, Kirsi H. Pietiläinen, Kristin G. Ardlie, L. Adrienne Cupples, LA Hindorff, Lachlan Coin, Lambertus Kiemeney, Larry D. Atwood, Laura Zagato, Lee M. Kaplan, Leena Peltonen, Leif C. Groop, Lenore J. Launer, Liesbeth Vandenput, Liming Liang, Lina Zgaga, Lorena Citterio, Lu Qi, Lyle J. Palmer, M Weinstein, M. Carola Zillikens, M. Juhani Junttila, Manfred Kayser, Manuela Uda, Mari Nelis, Mari-Liis Tammesoo, Marja-Liisa Lokki, Marjo-Riitta Jarvelin, Marjolein J. Peters, Mark I. McCarthy, Mark J. Caulfield, Markku Koiranen, Markku S. Nieminen, Markus Perola, Martin den Heijer, Martin Farrall, Martin Ridderstråle, Martina Müller, Mary F. Feitosa, Massimo Mangino, Matthew N. Cooper, Mattias Lorentzon, Michael A. Province, Michael Boehnke, Michael C. Turchin, Michael E. Goddard, Michael N. Weedon, Michael Preuss, Michael Stumvoll, Mika Kähönen, MN Weedon, MN Weedon, N Soranzo, Najaf Amin, Nancy L. Heard-Costa, Neil R. Robertson, Nelson B. Freimer, Nicholas G. Martin, Nicholas J. Wareham, Nicola Glorioso, Nicole L. Glazer, Nicole Soranzo, Nigel W. Rayner, Niina Pellikka, Nilanjan Chatterjee, Nilesh J. Samani, Olle Melander, Olli Raitakari, Ozren Polasek, Paavo Zitting, Pablo V. Gejman, Panos Deloukas, Patricia B. Munroe, Paul Elliott, Paul M. Ridker, Per Hall, Peter Almgren, Peter Kovacs, Peter Kraft, Peter M. Visscher, Peter P. Pramstaller, PM Visscher, Quince Gibson, RA Fisher, Rany M. Salem, Reedik Mägi, Richard B. Hayes, Richard N. Bergman, Robert C. Kaplan, Robert J. Weyant, Robert W. Lawrence, Roberto Elosua, Ruth J. F. Loos, S Raychaudhuri, S Sanna, Sailaja Vedantam, Samuli Ripatti, Sarah H. Wild, Sekar Kathiresan, Seppo Koskinen, Serena Sanna, Shamika Ketkar, Shaun Purcell, Shen Haiqing, SM Purcell, Sonja I. Berndt, Soumya Raychaudhuri, SP Dickson, Stefan Schreiber, Stephen J. Chanock, Suzanne Rafelt, Sven Bergmann, TA Manolio, Talin Haritunians, Tamara B. Harris, Teresa Ferreira, Terho Lehtimäki, Themistocles L. Assimes, Thomas Illig, Thomas Kocher, Thomas Meitinger, Thomas Quertermous, Thomas W. Winkler, Thor Aspelund, Timothy D. Spector, Timothy M. Frayling, Toby Johnson, Tom H. Mosley Jr, Tomi Pastinen, Tony Kwan, Tsegaselassie Workalemahu, Tuomas O. Kilpeläinen, Tushar Bhangale, Tõnu Esko, Ulf Gyllensten, Ulla Sovio, Unnur Thorsteinsdottir, Valgerdur Steinthorsdottir, Veikko Salomaa, Veronique Vitart, Vilmundur Gudnason, Vincent Mooser, Wendy L. McArdle, Willem H. Ouwehand, Wilmar Igl, Wolfgang Hoffman, Yurii S. Aulchenko, Zoltán Kutalik, Åsa Johansson   +319 more
core   +6 more sources

Novel genetic variants data for adaptation to hypoxia in native chickens

BMC Research Notes, 2023
Objective The genomic response and the role of genetic variants in hypoxia condition are always interesting issues about adaption pathways at genomic level.
Atieh Moradi, Hamed Kharrati-Koopaee, Morteza Fardi, Mehdi Farahmandzadeh, Fatemeh Nowroozi   +4 more
doaj   +1 more source

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +3 more sources

Rare Variants in Transcript and Potential Regulatory Regions Explain a Small Percentage of the Missing Heritability of Complex Traits in Cattle. [PDF]

PLoS ONE, 2015
The proportion of genetic variation in complex traits explained by rare variants is a key question for genomic prediction, and for identifying the basis of "missing heritability"--the proportion of additive genetic variation not captured by common ...
Oscar Gonzalez-Recio, Hans D Daetwyler, Iona M MacLeod, Jennie E Pryce, Phil J Bowman, Ben J Hayes, Michael E Goddard   +6 more
doaj   +1 more source

iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types. [PDF]

, 2017
Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease.
Adler, Eric, Aguirre, Aitor, Arias, Angelo D, Benaglio, Paola, Berggren, W Travis, Borja, Victor, Chi, Neil C, Cook, Megan, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Dargitz, Carl T, DeBoever, Christopher, Diffenderfer, Kenneth E, Donovan, Margaret KR, Drees, Frauke, Evans, Sylvia M, Farnam, KathyJean, Feiring, Rachel, Frazer, Kelly A, Garcia, Melvin, Goldstein, Lawrence SB, Greenwald, William W, Grinstein, Jonathan D, Harismendy, Olivier, Hashem, Sherin I, Hishida, Yuriko, Izpisua Belmonte, Juan Carlos, Jakubosky, David A, Jepsen, Kristen, Li, He, Loring, Jeanne F, Matsui, Hiroko, McGarry, Thomas J, Miller, Carl A, Modesto, Veronica, Müller, Franz-Josef, Nariai, Naoki, Nelson, Bradley C, O'Connor, Daniel T, Okubo, Jonathan, Panopoulos, Athanasia D, Rao, Fangwen, Reyna, Joaquin, Schuldt, Bernhard M, Smith, Erin N, Williams, Roy, Yeo, Gene W, Zhao, Chang   +47 more
core   +2 more sources

Genetic variants of SLC11A1 are associated with both autoimmune and infectious diseases: Systematic review and meta-analysis [PDF]

, 2015
© 2015 Macmillan Publishers Limited All rights reserved. A systematic review and meta-analyses were undertaken to investigate the association of SLC11A1 genetic variants with disease occurrence.
Archer, NS, Nassif, NT, O'Brien, BA
core   +1 more source

Genome-wide association study identifies common and low-frequency variants at the AMHgene locus that strongly predict serum AMH levels in males [PDF]

, 2016
Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females.
Day, Felix R., Lawlor, Debbie A., McMahon, George, Nelson, Scott M., Perry, John R.B., Ring, Susan M.   +5 more
core   +1 more source