Results 41 to 50 of about 1,222,922 (326)

Rare Variants in Transcript and Potential Regulatory Regions Explain a Small Percentage of the Missing Heritability of Complex Traits in Cattle. [PDF]

PLoS ONE, 2015
The proportion of genetic variation in complex traits explained by rare variants is a key question for genomic prediction, and for identifying the basis of "missing heritability"--the proportion of additive genetic variation not captured by common ...
Oscar Gonzalez-Recio, Hans D Daetwyler, Iona M MacLeod, Jennie E Pryce, Phil J Bowman, Ben J Hayes, Michael E Goddard   +6 more
doaj   +1 more source

Molecular Genetic Influences on Normative and Problematic Alcohol Use in a Population-Based Sample of College Students [PDF]

, 2017
Background: Genetic factors impact alcohol use behaviors and these factors may become increasingly evident during emerging adulthood. Examination of the effects of individual variants as well as aggregate genetic variation can clarify mechanisms ...
Adkins, Amy, Aliev, Fazil, Cho, Seung B., Cooke, Megan E., Dick, Danielle M., Edwards, Alexis C., Kendler, Kenneth S., Kitchens, James N., Neale, Zoe, Pedersen, Kimberly, Riley, Brien P., Salvatore, Jessica E., Savage, Jeanne E., Sun, Cuie, Webb, Bradley T., Williamson, Vernell S., Wolen, Aaron R.   +16 more
core   +2 more sources

Genetic Variants And Atherosclerosis

, 2009
{"references": ["Maton, Anthea, Roshan L,et al. Human Biology and Health. Englewood\nCliffs, New Jersey, USA: Prentice Hall. (1993); ISBN 0-13-981176-1.\nOCLC 32308337", "Ridker PM. Inflammation, atherosclerosis, and cardiovascular risk: an\nepidemiologic view. Blood Coagul Fibrinolysis.
M. Seifi, A. Ghasemi, M. Khosravi, M. Salimi, S. Jahandideh, J. Sherizadeh, F. S. Hashemizadeh, R. Khodaei   +7 more
openaire   +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

The genetic contribution to severe post-traumatic osteoarthritis [PDF]

, 2013
Objective: to compare the combined role of genetic variants loci associated with risk of knee or hip osteoarthritis (OA) in post-traumatic (PT) and non-traumatic (NT) cases of clinically severe OA leading to total joint replacement.
Ana M Valdes, Anderson, arcOGEN Consortium and arcOGEN Collaborators, Brown, Castaño-Betancourt, Day-Williams, Dieppe, Doherty, Englund, Evangelou, Herrero-Beaumont, Kenneth R Muir, Lopez, Margaret Wheeler, Michael Doherty, Muthuri, Rose A Maciewicz, Sally A Doherty, Sward, Valdes, Valdes, Weiya Zhang   +21 more
core   +1 more source

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

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]

, 2020
Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R, Banerjee, R, Bell, J.D., Bell, J.D., Hemingway, H., Hemingway, H., Hingorani, A.D., Hingorani, A.D., Kelly, M., Kelly, M., McGonigle, J., McGonigle, J., Neubauer, S., Neubauer, S., Nicholls, R.C., Nicholls, R.C., Parisinos, C.A., Parisinos, C.A., Patel, R.S., Patel, R.S., Thomas, E.L., Thomas, E.L., Wilman, H., Wilman, H., Yaghootkar, H., Yaghootkar, H.   +25 more
core   +3 more sources

Evidence of widespread selection on standing variation in Europe at height-associated SNPs. [PDF]

, 2012
Strong signatures of positive selection at newly arising genetic variants are well documented in humans(1-8), but this form of selection may not be widespread in recent human evolution(9).
Chiang, Charleston WK, Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Hirschhorn, Joel N, Palmer, Cameron D, Reich, David, Sankararaman, Sriram, Turchin, Michael C   +6 more
core   +1 more source

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Journal of Cardiovascular Development and Disease, 2022
(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in ...
Dominik Sebastian Westphal, Kathrin Pollmann, Christoph Marschall, Annette Wacker-Gussmann, Renate Oberhoffer-Fritz, Karl-Ludwig Laugwitz, Peter Ewert, Cordula Maria Wolf   +7 more
doaj   +1 more source

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