Results 21 to 30 of about 8,825,337 (378)

Genetic Alterations Associated With Cryptorchidism [PDF]

JAMA, 2008
Cryptorchidism is the most frequent congenital birth defect in male children and represents an important risk factor for infertility and testicular cancer. Major regulators of testicular descent are the hormones insulin-like factor 3 (INSL3) and testosterone, and disruption of these pathways might cause cryptorchidism.To determine the frequency of ...
FERLIN, ALBERTO, ZUCCARELLO D, ZUCCARELLO B, CHIRICO MR, ZANON, GIOVANNI FRANCO, FORESTA, CARLO   +5 more
openaire   +6 more sources

Genetic model misspecification in genetic association studies [PDF]

BMC Research Notes, 2017
The underlying model of the genetic determinant of a trait is generally not known with certainty a priori. Hence, in genetic association studies, a dominant model might be erroneously modelled as additive, an error investigated previously. We explored this question, for candidate gene studies, by evaluating the sample size required to compensate for ...
Amadou Gaye, Sharon K. Davis
openaire   +4 more sources

FinnGen provides genetic insights from a well-phenotyped isolated population

Nature, 2023
Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä, K. Kristiansson, K. Donner, M. Reeve, H. Laivuori, M. Aavikko, M. Kaunisto, A. Loukola, E. Lahtela, Hannele Mattsson, P. Laiho, Pietro della Briotta Parolo, Arto A Lehisto, M. Kanai, N. Mars, Joel T. Rämö, T. Kiiskinen, H. Heyne, K. Veerapen, S. Rüeger, S. Lemmelä, Wei Zhou, S. Ruotsalainen, K. Pärn, T. Hiekkalinna, Sami Koskelainen, T. Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, H. Siirtola, Kadri Reis, A. Elnahas, B. Sun, Christopher N. Foley, K. Aalto-Setälä, Kaur Alasoo, Mikko Arvas, K. Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, O. Carpén, Chia-Yen Chen, O. A. Dada, Zhihao Ding, M. Ehm, K. Eklund, M. Färkkilä, H. Finucane, A. Ganna, A. Ghazal, R. Graham, Eric M. Green, A. Hakanen, M. Hautalahti, Å. Hedman, M. Hiltunen, R. Hinttala, I. Hovatta, Xinli Hu, A. Huertas-Vazquez, L. Huilaja, J. Hunkapiller, H. Jacob, J. Jensen, H. Joensuu, Sally John, Valtteri Julkunen, M. Jung, J. Junttila, K. Kaarniranta, M. Kähönen, Risto Kajanne, Lila Kallio, R. Kälviäinen, J. Kaprio, N. Kerimov, J. Kettunen, Elina Kilpeläinen, T. Kilpi, Katherine W. Klinger, V. Kosma, T. Kuopio, Venla Kurra, T. Laisk, J. Laukkanen, Nathan Lawless, Aoxing Liu, S. Longerich, R. Mägi, J. Mäkelä, Antti A. Mäkitie, A. Malarstig, A. Mannermaa, Joseph C Maranville, A. Matakidou, T. Meretoja, S. Mozaffari, Mari E. K. Niemi, Mari E. K. Niemi, T. Niiranen, Christopher J O 'donnell, M. Obeidat, G. Okafo, H. Ollila, A. Palomäki, T. Palotie, J. Partanen, D. Paul, Margit K. Pelkonen, Rion K. Pendergrass, S. Petrovski, A. Pitkäranta, A. Platt, D. Pulford, E. Punkka, P. Pussinen, Neha S. Raghavan, F. Rahimov, D. Rajpal, N. Renaud, B. Riley-Gillis, R. Rodosthenous, Elmo Saarentaus, A. Salminen, Eveliina Salminen, V. Salomaa, J. Schleutker, R. Serpi, Huei-yi Shen, R. Siegel, K. Silander, S. Siltanen, S. Soini, H. Soininen, J. Sul, I. Tachmazidou, K. Tasanen, P. Tienari, S. Toppila-Salmi, T. Tukiainen, T. Tuomi, J. Turunen, J. Ulirsch, Felix C. Vaura, P. Virolainen, J. Waring, D. Waterworth, Robert Yang, M. Nelis, A. Reigo, A. Metspalu, L. Milani, T. Esko, Caroline Fox, A. Havulinna, M. Perola, S. Ripatti, A. Jalanko, Tarja Laitinen, T. Mäkelä, R. Plenge, M. McCarthy, H. Runz, M. Daly, A. Palotie   +167 more
semanticscholar   +1 more source

Introduction to Genetic Association Studies [PDF]

Cold Spring Harbor Protocols, 2012
Genetic association studies are used to find candidate genes or genome regions that contribute to a specific disease by testing for a correlation between disease status and genetic variation. This article provides a broad outline of the design and analysis of such studies, focusing on case–control studies in candidate genes or regions.
Lewis, Cathryn M, Knight, Jo
openaire   +4 more sources

Population stratification and genetic association studies in South Asia [PDF]

, 2005
Population stratification and its influence on genetic association studies is a controversial topic. Although it has been suggested that stratification is unlikely to bias the results of association studies conducted in developed countries, convincing ...
Bittles, A.H.
core   +2 more sources

Genetics of Anthracycline-Associated Cardiotoxicity

Frontiers in Cardiovascular Medicine, 2022
Anthracyclines are a major component of chemotherapies used in many pediatric and adult malignancies. Anthracycline-associated cardiotoxicity (ACT) is a dose-dependent adverse effect that has substantial impact on morbidity and mortality. Therefore, the identification of genetic variants associated with increased risk of ACT has the potential for ...
Talal Khalid Al-Otaibi, Benjamin Weitzman, Usman A. Tahir, Aarti Asnani   +3 more
openaire   +3 more sources

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

Nature Genetics, 2017
In genome-wide association studies (GWAS) for thousands of phenotypes in large biobanks, most binary traits have substantially fewer cases than controls.
W. Zhou, J. Nielsen, L. Fritsche, Rounak Dey, M. Gabrielsen, B. Wolford, J. Lefaive, Peter Vandehaar, Sarah A Gagliano, A. Gifford, L. Bastarache, Wei-Qi Wei, J. Denny, Maoxuan Lin, K. Hveem, H. Kang, G. Abecasis, C. Willer, Seunggeun Lee   +18 more
semanticscholar   +1 more source

Psychometric precision in phenotype definition is a useful step in molecular genetic investigation of psychiatric disorders [PDF]

, 2015
Affective disorders are highly heritable, but few genetic risk variants have been consistently replicated in molecular genetic association studies. The common method of defining psychiatric phenotypes in molecular genetic research is either a summation ...
A Brown, A Demirkan, AE Green, BF Voight, CC Minica, DP Goldberg, DP Goldberg, F Samejima, F Stephenson, FF Chen, FV Rijsdijk, HM Kravitz, HW Marsh, HW Marsh, HW Marsh, HW Marsh, HW Marsh, J Liao, JC Barrett, K Hek, K Rousseau, L Hu, LE Duncan, LK Muthén, M Burmeister, M Eid, M Feyder, M Jansson, M Jeon, M Stafford, MEJ Wadsworth, NK Hansell, NR Wray, P McGuffin, P Sklar, P Sullivan, PH Lee, R Plomin, RL Jennrich, RL Jennrich, S Papiol, S Ripke, S van der Sluis, S van der Sluis, S van der Sluis, SE Medland, SP Reise, SP Reise, SP Reise, SP Reise, T Shah, U Reininghaus, U Reininghaus, V Panicker, W Feng, X Fan   +55 more
core   +6 more sources

Heritability estimates of the position and number of facial hair whorls in Thoroughbred horses

BMC Research Notes, 2019
Objective According to oral traditions of horse caretakers and trainers, the differences in the position and number of facial hair whorls may be associated with temperamental traits.
Tamu Yokomori, Teruaki Tozaki, Hiroshi Mita, Takeshi Miyake, Hironaga Kakoi, Yuki Kobayashi, Kanichi Kusano, Takuya Itou   +7 more
doaj   +1 more source

Genetic association testing using the GENESIS R/Bioconductor package

Bioinform., 2019
SUMMARY The Genomic Data Storage (GDS) format provides efficient storage and retrieval of genotypes measured by microarrays and sequencing. We developed GENESIS to perform various single- and aggregate-variant association tests using genotype data stored
S. Gogarten, T. Sofer, Han Chen, Chaoyu Yu, J. Brody, T. Thornton, K. Rice, M. Conomos   +7 more
semanticscholar   +1 more source