Results 41 to 50 of about 4,753,986 (376)

Sample size requirements to detect the effect of a group of genetic variants in case-control studies

Emerging Themes in Epidemiology, 2008
Background Because common diseases are caused by complex interactions among many genetic variants along with environmental risk factors, very large sample sizes are usually needed to detect such effects in case-control studies. Nevertheless, many genetic
Khoury Muin J, Yang Quanhe, Moonesinghe Ramal   +2 more
doaj   +1 more source

HUMAN GENETIC VARIANTS AND THEIR ANALYSIS: CURRENT STATE AND FUTURE PERSPECTIVES

Slovenska pediatrija, 2020
Human genetic variants occur throughout the whole genome, both in the coding and non-coding regions. In addition to defining genetic diversity among individuals, they may, in some instances, cause various genetic diseases, many of which have their onset ...
Lara Slavec, Ksenija Geršak, Nataša Karas Kuželički, Katarina Trebušak Podkrajšek   +3 more
doaj   +1 more source

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

Genetic determinants of co-accessible chromatin regions in activated T cells across humans. [PDF]

, 2018
Over 90% of genetic variants associated with complex human traits map to non-coding regions, but little is understood about how they modulate gene regulation in health and disease.
A Barrie, A Battle, A Franke, AA Shabalin, AM Klein, AR Quinlan, Atsede Siba, Aviv Regev, Aviva P. Aiden, B Li, BE Stranger, C Hou, Christine S. Cheng, Christophe Benoist, Chun J. Ye, CJ Ye, CK Stroud, D Hnisz, D Lee, D Sakata, DE Speiser, Dmytro Lituiev, E Elinav, E Splinter, EM Schmidt, Erez Lieberman Aiden, EZ Macosko, G Jun, G McVicker, H Kilpinen, H Li, H Li, HK Finucane, HM Kang, Howard Y. Chang, Ido Machol, Ivo Wortman, J Yang, JD Buenrostro, JD Buenrostro, JD Storey, JE Phillips, JF Degner, JN Hirschhorn, JS Delisle, K Enjyoji, Kendrick L. Hougen, KK Farh, L Chen, L Plesner, M Feuerer, M Ghandi, M Kasowski, M Kronenberg, M Kurachi, M. Grace Gordon, Marcin Tabaka, MB Gerstein, Meena Subramaniam, MI Love, MI McCarthy, Michael A. Beer, MN Lee, MT Maurano, Muhammad Shamim, MY Donath, N Kumasaka, NC Durand, Neva C. Durand, NP Restifo, P Cauchy, P Li, PC Hollenhorst, Philip L. De Jager, PM Visscher, PS Ohashi, R Satija, Rachel E. Gate, RE Thurman, RM Samstein, Roadmap Epigenomics Consortium,, S Deaglio, S Heinz, S Neph, SM Waszak, SS Rao, Su-Chen Huang, T Lappalainen, T Raj, The ENCODE Project Consortium., Ting Feng, TL Murphy, UM Marigorta, WA Whyte, WJ Astle, X Chen, X Sun, Y Belkaid, Y Zhang, YY Fan   +99 more
core   +2 more sources

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

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

IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes

Nucleic Acids Research, 2020
With the advent of next-generation sequencing, large-scale initiatives for mining whole genomes and exomes have been employed to better understand global or population-level genetic architecture.
Abhinav R Jain, R. Bhoyar, Kavita Pandhare, A. Mishra, D. Sharma, M. Imran, V. Senthivel, M. Divakar, M. Rophina, B. Jolly, Arushi Batra, Sumit Sharma, Sanjay Siwach, A. Jadhao, N. V. Palande, G. N. Jha, Nishat Ashrafi, P. Mishra, Vidhya A. K., Suman Jain, D. Dash, N. S. Kumar, Andrew Vanlallawma, Ranjan Jyoti Sarma, Lalchhandama Chhakchhuak, S. Kalyanaraman, Radha Mahadevan, Sunitha Kandasamy, Pabitha B. M., Raskin Erusan Rajagopal, Ezhil Ramya J., N. P., Anjali Bajaj, V. Gupta, Samatha Mathew, S. Goswami, Mohit Mangla, S. Prakash, Kandarp Joshi, Meyakumla, S. S., D. Gajjar, R. Soraisham, R. Yadav, Yumnam Silla Devi, Aayush Gupta, M. Mukerji, S. Ramalingam, Binukumar B. K., V. Scaria, S. Sivasubbu   +50 more
semanticscholar   +1 more source

Genetic susceptibility variants in parkinsonism [PDF]

Parkinsonism & Related Disorders, 2016
Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent.
Alexandra I, Soto-Ortolaza, Owen A, Ross
openaire   +2 more sources

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

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