Results 41 to 50 of about 1,253,541 (298)

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders [PDF]

, 2016
Personality is influenced by genetic and environmental factors1 and associated with mental health. However, the underlying genetic determinants are largely unknown.
A Okbay, A Ramasamy, AE Poropat, Anders M Dale, Andrew Schork, B Bulik-Sullivan, B Devlin, B Franke, B Howie, BK Bulik-Sullivan, BM Henn, C Giambartolomei, CA Rietveld, Carol Franz, CG DeYoung, Chi-Hua Chen, Chun-Chieh Fan, CJ Soto, CJ Willer, D Falush, D Trabzuni, Daniel J Smith, David A Hinds, DF Gudbjartsson, DJ Smith, Dominic Holland, DP Hibar, DR Nyholt, E Green, G Bjornsdottir, Gyda Bjornsdottir, HC So, HN Kim, Hreinn Stefansson, J Van Os, J Yang, JA Gray, JH Barnett, JK Pickrell, JM Hettema, Joyce Y Tung, JR Gulcher, K Åberg, Kari Stefansson, Karolina Kauppi, KS Kendler, L Mezquita, Linda K McEvoy, LR Goldberg, MA Distel, MH de Moor, MH de Moor, Michael O'Donovan, Min-Tzu Lo, Nilotpal Sanyal, Olav B Smeland, Ole A Andreassen, P Bůžková, R Plomin, R Tabarés-Seisdedos, RA Power, RA Power, RJ Pruim, S Jakobwitz, S Purcell, S Ripke, SBG Eysenck, SL Karalunas, SM van den Berg, SM van den Berg, SR Browning, T Insel, T Vukasović, TA Greenwood, Thorgeir E Thorgeirsson, TJ Trull, V Boraska, Valentina Escott-Price, WK Thompson, Y Hu, Y Ono, Y Wang, Yunpeng Wang   +82 more
core   +3 more sources

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change. [PDF]

, 2020
In pharmacogenomic studies of quantitative change, any association between genetic variants and the pretreatment (baseline) measurement can bias the estimate of effect between those variants and drug response.
Haldar, Tanushree, Hoffmann, Thomas J, Iribarren, Carlos, Krauss, Ronald M, Medina, Marisa W, Oni-Orisan, Akinyemi, Ranatunga, Dilrini K, Risch, Neil, Schaefer, Catherine   +8 more
core   +2 more sources

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. [PDF]

PLoS Genetics, 2013
Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations.
Ferran Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean-Christophe Grenier, Elias Gbeha, Fadi F Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L Michaud, Guy A Rouleau, Elie Haddad, Françoise Le Deist, Philip Awadalla   +20 more
doaj   +1 more source

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Substrate Specificity of CYP2D6 Genetic Variants

Pharmacogenomics, 2021
Genetic variation in the gene encoding CYP2D6 is used to guide drug prescribing in clinical practice. However, genetic variants in CYP2D6 show substrate-specific effects that are currently not accounted for. With a systematic literature, we retrieved 22 original studies describing in vitro experiments focusing on CYP2D6 alleles (CYP2D6*1, *2, *10 and ...
Lee, M. van der, Guchelaar, H.J., Swen, J.J.   +2 more
openaire   +3 more sources

Novel Genetic Variants of CDC25A Significantly Increase Risk of Spermatogenesis Arrest in Men from Bengali Population, India: A Cross-Sectional Study

Journal of Human Reproductive Sciences
Background: Idiopathic azoospermia is one of the most common reasons for male infertility, but little is known about its genetic origins. The CDC25A gene, a meiotic core regulator, encodes a phosphatase that triggers the G1/S transition of meiosis.
Samudra Pal, Pranab Paladhi, Saurav Dutta, Ratna Chattopadhyay, Sujay Ghosh   +4 more
doaj   +1 more source

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease‐causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familial ...
Daniel Quiat, Leora Witkowski, Hana Zouk, Kevin P. Daly, Amy E. Roberts   +4 more
doaj   +1 more source

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

Integrative Genomic Analysis for the Discovery of Biomarkers in Prostate Cancer

Biomarker Insights, 2014
Genome-wide association studies (GWAS) have achieved great success in identifying single nucleotide polymorphisms (SNPs, herein called genetic variants) and genes associated with risk of developing prostate cancer. However, GWAS do not typically link the
Chindo Hicks, Tejaswi Koganti, Shankar Giri, Memory Tekere, Ritika Ramani, Jitsuda Sitthi-Amorn, Srinivasan Vijayakumar   +6 more
doaj   +1 more source

Efficient inference for genetic association studies with multiple outcomes

, 2017
Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study.
Davison, Anthony C., Hager, Jörg, Irincheeva, Irina, Ruffieux, Hélène   +3 more
core   +1 more source