Results 31 to 40 of about 35,658 (190)

Profiling phenome-wide associations: a population-based observational study [PDF]

Journal of the American Medical Informatics Association, 2015
Abstract Objectives To objectively characterize phenome-wide associations observed in the entire Taiwanese population and represent them in a meaningful, interpretable way. Study Design In this population-based observational study, we analyzed 782 million outpatient visits and 15 394 unique phenotypes that were observed in
Shabbir, Syed-Abdul, Max, Moldovan, Phung-Anh, Nguyen, Ruslan, Enikeev, Wen-Shan, Jian, Usman, Iqbal, Min-Huei, Hsu, Yu-Chuan, Li   +7 more
openaire   +2 more sources

Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan

Frontiers in Medicine, 2022
Excess thyroid hormones have complex metabolic effects, particularly hyperthyroidism, and are associated with various cardiovascular risk factors. Previous candidate gene studies have indicated that genetic variants may contribute to this variable ...
Ting-Yuan Liu, Ting-Yuan Liu, Wen-Ling Liao, Wen-Ling Liao, Wen-Ling Liao, Tzu-Yuan Wang, Tzu-Yuan Wang, Chia-Jung Chan, Jan-Gowth Chang, Yu-Chia Chen, Yu-Chia Chen, Hsing-Fang Lu, Hsien-Hui Yang, Shih-Yin Chen, Shih-Yin Chen, Fuu-Jen Tsai, Fuu-Jen Tsai, Fuu-Jen Tsai   +17 more
doaj   +1 more source

Identifying shared genetic architecture between rheumatoid arthritis and other conditions: a phenome-wide association study with genetic risk scores. [PDF]

EBioMedicine, 2023
Zhang HG, McDermott G, Seyok T, Huang S, Dahal K, L'Yi S, Lea-Bonzel C, Stratton J, Weisenfeld D, Monach P, Raychaudhuri S, Yu KH, Cai T, Cui J, Hong C, Cai T, Liao KP.   +16 more
europepmc   +2 more sources

HCLC-FC: a novel statistical method for phenome-wide association studies

PLOS ONE, 2022
AbstractThe emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association studies (PheWAS). In PheWAS, the whole phenome can be divided into numerous phenotypic categories according to the genetic architecture across phenotypes.
Xiaoyu Liang, Xuewei Cao, Qiuying Sha, Shuanglin Zhang   +3 more
openaire   +3 more sources

Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View

BioData Mining, 2012
Background Phenome-Wide Association Studies (PheWAS) can be used to investigate the association between single nucleotide polymorphisms (SNPs) and a wide spectrum of phenotypes.
Pendergrass Sarah A, Dudek Scott M, Crawford Dana C, Ritchie Marylyn D   +3 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

Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration [PDF]

, 2019
Background & Aims: Excess liver iron content is common and is linked to hepatic and extrahepatic disease risk. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases ...
Atabaki-Pasdar, Naeimeh, Banasik, Karina, Banerjee, Rajarshi, Baum, Patrick, Bell, Jimmy D., Beulens, Joline, Beulens, Joline, Bizzotto, Bonneford, Amelie, Brorsson, Caroline, Brunak, Soren, Caiazzo, Robert, Canouil, Mickael, de Masi, Federico, Dhennin, Veronique, Dings, Christiane, Ehrhardt, Beate, Franks, Paul W., Freijer, Jan, Froguel, Philippe, Giorgino, Toni, Graefe-Mody, Ulrike, Grempler, Rolf, Groeneveld, Lenka, Groeneveld, Lenka, Gudmundsdóttir, Valborg, Hemingway, Harry, Hennige, Anita, Hingorani, Aroon D., Jennison, Christopher, Kelly, Matt, Koopman, Anitra, Koopman, Anitra, Koopman, Anitra, Lehr, Thorsten, Lundgaard, Agnete, Mahajan, Anubha, Mari, Andrea, Neubauer, Stefan, Parisinos, Constantinos A., Patel, Riyaz S., Pattou, Francois, Pedersen, Helle, Raverdi, Violeta, Rutters, Femke, Rutters, Femke, Sackett, Peter, Scherer, Nina, Schoelsch, Corinna, Sihinecich, Iryna, Staerfeldt, Hans-Henrik, Thomas, Cecilia, Thomas, E. Louise, Thomas, Louise, Torres, Fanelly, Tura, Andrea, Verkindt, Helene, Whitcher, Brandon, Wilman, Henry R., Yaghootkar, Hanieh   +59 more
core   +7 more sources

Psychiatric genetics and the structure of psychopathology [PDF]

, 2018
For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent ...
Andreassen, Ole A., Edenberg, Howard J., Faraone, Stephen V., Glatt, Stephen J., Kendler, Kenneth S., Smoller, Jordan W.   +5 more
core   +1 more source

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children [PDF]

Scientific Reports, 2016
AbstractTo dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma and Allergies in Children) Phase II tools.
Karaca, Sefayet, Civelek, Ersoy, Karaca, Mehmet, Sahiner, Umit M., Ozgul, Riza K., Kocabas, Can N., Polimanti, Renato, Sekerel, Bulent E.   +7 more
openaire   +5 more sources

A common and unstable copy number variant is associated with differences in Glo1 expression and anxiety-like behavior [PDF]

, 2015
Glyoxalase 1 (Glo1) has been implicated in anxiety-like behavior in mice and in multiple psychiatric diseases in humans. We used mouse Affymetrix exon arrays to detect copy number variants (CNV) among inbred mouse strains and thereby identified a ...
Borevitz, Justin O., Distler, Margaret G., Harr, Bettina, Lim, Jackie E., Palmer, Abraham A., Sokoloff, Greta, Su, Andrew I., Tarantino, Lisa M., Teschke, Meike, Walters, Ryan, Williams, Richard, Wiltshire, Tim, Wing, Claudia, Wu, Chunlei   +13 more
core   +2 more sources