Results 21 to 30 of about 4,753,986 (376)

DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information [PDF]

PeerJ, 2023
Background Genetic variants may potentially play a contributing factor in the development of diseases. Several genetic disease databases are used in medical research and diagnosis but the web applications used to search these databases for disease ...
Khunanon Chanasongkhram, Kasikrit Damkliang, Unitsa Sangket   +2 more
doaj   +2 more sources

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

Nature Communications, 2020
Mendelian randomization (MR) is an epidemiological technique that uses genetic variants to distinguish correlation from causation in observational data. The reliability of a MR investigation depends on the validity of the genetic variants as instrumental
S. Burgess, Christopher N. Foley, E. Allara, James R. Staley, J. Howson   +4 more
semanticscholar   +1 more source

Genomic Diversity Evaluation of Populus trichocarpa Germplasm for Rare Variant Genetic Association Studies

Frontiers in Genetics, 2020
Genome-wide association studies are powerful tools to elucidate the genome-to-phenome relationship. In order to explain most of the observed heritability of a phenotypic trait, a sufficient number of individuals and a large set of genetic variants must ...
Anthony Piot, Anthony Piot, Anthony Piot, Julien Prunier, Julien Prunier, Julien Prunier, Nathalie Isabel, Jaroslav Klápště, Yousry A. El-Kassaby, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Ilga Porth, Ilga Porth, Ilga Porth   +14 more
doaj   +1 more source

Presence of Genetic Variants Among Young Men With Severe COVID-19.

Journal of the American Medical Association (JAMA), 2020
Importance Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some individuals may have primary immunodeficiencies that predispose to severe infections caused by severe ...
C. I. van der Made, A. Simons, J. Schuurs-Hoeijmakers, G. van den Heuvel, T. Mantere, Simone Kersten, R. V. van Deuren, M. Steehouwer, S. V. van Reijmersdal, M. Jaeger, T. Hofste, G. Astuti, Jordi Corominas Galbany, Vyne van der Schoot, H. van der Hoeven, W. Hagmolen of ten Have, E. Klijn, Catrien van den Meer, Jeroen Fiddelaers, Q. de Mast, C. Bleeker‐Rovers, L. Joosten, H. Yntema, C. Gilissen, M. Nelen, J. V. D. van der Meer, H. Brunner, M. Netea, F. L. van de Veerdonk, A. Hoischen   +29 more
semanticscholar   +1 more source

Unified representation of genetic variants [PDF]

Bioinformatics, 2015
Abstract Summary: A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant callers and analyses will magnify discrepancies between them and complicate variant filtering and duplicate removal.
Adrian, Tan, Gonçalo R, Abecasis, Hyun Min, Kang   +2 more
openaire   +2 more sources

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population [PDF]

, 2020
Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD.
Arweiler-Harbeck, Begovich, Brama, Cabrera, Campbell, de Lima, Doi, Dong, Eichler, Filipo, Flook, Foster, Frejo, Frejo, Frejo, Furuta, Gallego-Martinez, Gazquez, Gazquez, Girirajan, Greco, Hietikko, Huang, Kawaguchi, Khorsandi, Kim, Kimura, Klar, Koo, Lee, Lee, Lee, Lee, Lettre, Li, Li, Lien, Lien, Liew, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Marcus, Martín-Sierra, Martín-Sierra, Melchiorri, Meng, Morrison, Mustelin, Nair, Nair, Nair, Nishio, Oliveira-Paula, Qin, Rasheed, Rauch, Recupero, Reich, Rentzsch, Requena, Requena, Requena, Requena, Roman-Naranjo, Saint Pierre, Schwanitz, Shu, Sun, Takumida, Teggi, Teggi, Teggi, Teranishi, Tilburg, Tomoda, Uchida, Vrabec, Yang, Yazdani, Yazdani   +81 more
core   +1 more source

Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations [PDF]

, 2009
Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences.
A Caspi, A Schulz, A. CecileJ.W. Janssens, Aaron Isaacs, AE Bielawska, Alan Wright, Anatoly V. Kirichenko, Andrew A. Hicks, Annette Peters, AR Morgan, Ayse Demirkan, B Devlin, Ben A. Oostra, C Gieger, C Pattaro, Caroline Hayward, Carsten Gnewuch, Christian Hengstenberg, Christine Schwienbacher, Christopher S. Franklin, Cornelia M. van Duijn, Cristian Pattaro, E Wang, F Dudbridge, Fabio Marroni, G Liebisch, G Liebisch, Gerd Schmitz, Gerhard Liebisch, Ghazal Zaboli, Greg Gibson, H.-Erich Wichmann, Harry Campbell, Heribert Schunkert, I Rudan, Igor Rudan, Inger Jonasson, Inke R. König, Irene Pichler, Irina V. Zorkoltseva, Ivana Kolcic, J Bras, J Erdmann, Jacqueline C. M. Witteman, James F. Wilson, Jeanette Erdmann, JL Dawkins, KJ Brookes, L Schaeffer, LN Clark, M Mehrabian, MA Simpson, N Amin, N Martinelli, Nick Hastie, NJ Samani, Ozren Polasek, P Wiesner, Peter P. Pramstaller, Peter Ugocsai, S Flamant, S Kathiresan, S Narayan, Sarah H. Wild, SL Schissel, ST Pruett, Stefan Schreiber, Susan Campbell, T Kolter, T Tanaka, Tatiana I. Axenovich, Thomas Meitinger, Ulf Gyllensten, V Vitart, Veronique Vitart, W Zheng, WC Nichols, Wilmar Igl, WL Holland, WM Chen, YS Aulchenko, YS Aulchenko, Yurii Aulchenko, Zrinka Biloglav, Åsa Johansson   +84 more
core   +14 more sources

The Functionality of UDP-Glucuronosyltransferase Genetic Variants and their Association with Drug Responses and Human Diseases

Journal of Personalized Medicine, 2021
UDP-glucuronosyltransferases (UGTs) are phase II drug-metabolizing enzymes that metabolize endogenous fatty acids such as arachidonic acid metabolites, as well as many prescription drugs, such as opioids, antiepileptics, and antiviral drugs.
Y. Jarrar, Su-Jun Lee
semanticscholar   +1 more source

Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]

, 2014
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler, Ballard, Besag, Besag, Browning, Burridge, Chatterjee, Cliff, Cressie, Davies, De Iorio, Gauderman, Gotze, Laird, Manolio, Molitor, Molitor, Price, Ritchie, Romeo, Rotar, Thomas, Tzeng, Wu, Wu   +24 more
core   +2 more sources

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]

, 2020
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana, Araya, Carmen, Araya, Xinia, Bearden, Carrie E, Bedoya, Gabriel, Bejarano, Julio, Cantor, Rita M, Castrillón, Gabriel, Coppola, Giovanni, Escobar, Javier I, Fears, Scott C, Freimer, Nelson B, Gomez-Makhinson, Juliana, Huang, Alden Y, Hwang, Sun-Goo, Kremeyer, Barbara, Lopez, Maria C, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Montoya, Claudia P, Montoya, Gabriel, Mullins, Niamh, Olde Loohuis, Loes M, Ophoff, Roel A, Ori, Anil PS, Ospina-Duque, Jorge, Park, YoungJun, Ramensky, Vasily, Ramirez, Margarita, Reus, Victor, Ruiz-Linares, Andres, Sabatti, Chiara, Service, Susan K, Spesny, Mitzi, Sul, Jae Hoon, Teshiba, Terri M, Zhang, Zhongyang   +37 more
core   +3 more sources