Results 31 to 40 of about 1,222,922 (326)

Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma

Scientific Reports, 2022
Primary open-angle glaucoma (POAG) is characterized by a progressive optic neuropathy with visual field loss. To investigate the genetic variants associated with visual field loss in POAG, Japanese POAG patients (n = 426) and control subjects (n = 246 ...
Fumihiko Mabuchi, Nakako Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Zentaro Yamagata, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie   +16 more
doaj   +1 more source

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

Discovery and genotyping of structural variation from long-read haploid genome sequence data [PDF]

, 2016
In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human genomes.
Boitano, Matthew, Chaisson, Mark J.P., Chin, Chen-Shin, Eichler, Evan E, Gordon, David, Graves-Lindsay, Tina A, Hoekzema, Kendra, Huddleston, John, Korlach, Jonas, Kronenberg, Zev N, Munson, Katherine M, Peluso, Paul, Steinberg, Karyn Meltz, Vives, Laura, Warren, Wes, Wilson, Richard K   +15 more
core   +2 more sources

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

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

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

A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease [PDF]

, 2015
Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association studies (GWAS) analysis of common SNPs.
Alver, M, Anand, SS, Ardissino, D, Armasu, SM, Assimes, TL, Auro, K, Bertram, L, Beutner, F, Bjonnes, A, Boerwinkle, E, Borecki, IB, Bottinger, EP, Buring, JE, Chambers, JC, Chasman, DI, Chen, S, Clarke, R, Collins, R, Consortium, C, Cupples, LA, Danesh, J, de Andrade, M, de Vries, PS, Dedoussis, G, Dehghan, A, Deloukas, P, Demuth, I, Elosua, R, Epstein, SE, Erdmann, J, Esko, T, Farrall, M, Feitosa, MF, Ford, I, Franceschini, N, Franco, OH, Franzosi, MG, Frossard, P, Gauguier, D, Gieger, C, Goel, A, Goodall, AH, Gottesman, O, Grace, C, Granger, CB, Gu, D, Gudnason, V, Gustafsson, S, Haber, M, Hall, AS, Hall, LM, Hamsten, A, Han, B-G, Harris, TB, Hazen, SL, Hengstenberg, C, Hofman, A, Hopewell, JC, Huang, J, Huang, J, Hwang, S-J, Ingelsson, E, Iribarren, C, Jalilzadeh, S, Jukema, JW, Kanoni, S, Karhunen, PJ, Kathiresan, S, Kessler, T, Kim, B-J, Kim, YK, Kleber, ME, Koenig, IR, Kooner, JS, Kullo, IJ, Kyriakou, T, Lannfelt, L, Lau, KW, Lehtimaki, T, Lieb, W, Lind, L, Lindgren, CM, Lokki, M-L, Loos, RJF, Lu, X, Lu, Y, Lyytikainen, L-P, Maerz, W, Magnusson, PK, Mallick, NH, McPherson, R, Mehra, N, Meitinger, T, Melander, O, Memon, F-U-R, Metspalu, A, Mihailov, E, Morris, AP, Morrison, AC, Nelson, CP, Nieminen, MS, Nikpay, M, O'Donnell, CJ, Palmer, CN, Pedersen, NL, Perola, M, Pervjakova, N, Peters, A, Qu, L, Quertermous, T, Rader, DJ, Rallidis, LS, Rasheed, A, Reilly, MP, Ridker, PM, Ripatti, S, Roberts, R, Rose, LM, Saleheen, D, Salfati, E, Salomaa, V, Samani, NJ, Samuel, M, Sanghera, DK, Saxena, R, Scholz, M, Schunkert, H, Schwartz, SM, Seedorf, U, Shah, SH, Sinisalo, J, Smith, AV, Stewart, AF, Stirrups, KE, Stott, DJ, Thiery, J, Thompson, JR, Tikkanen, E, Trompet, S, Uitterlinden, A, van Zuydam, NR, Wang, L, Watkins, H, Webb, TR, Willenborg, C, Won, H-H, Yang, X, Zalloua, PA, Zaman, KS, Zeng, L, Zhang, W, Zhao, W   +151 more
core   +5 more sources

Population Genetics of Rare Variants and Complex Diseases [PDF]

, 2012
Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today.
Hernandez, Ryan D., Maher, M. Cyrus, Torgerson, Dara G., Uricchio, Lawrence H.   +3 more
core   +2 more sources

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources