Results 41 to 50 of about 35,658 (190)

Privacy in the Genomic Era [PDF]

, 2015
Genome sequencing technology has advanced at a rapid pace and it is now possible to generate highly-detailed genotypes inexpensively. The collection and analysis of such data has the potential to support various applications, including personalized ...
Ayday, Erman, Clayton, Ellen W., Fellay, Jacques, Gunter, Carl A., Hubaux, Jean-Pierre, Malin, Bradley A., Naveed, Muhammad, Wang, XiaoFeng   +7 more
core   +4 more sources

Revealing polygenic pleiotropy using genetic risk scores for asthma

HGG Advances, 2023
Summary: In this study we examined how genetic risk for asthma associates with different features of the disease and with other medical conditions and traits.
Matthew Dapas, Yu Lin Lee, William Wentworth-Sheilds, Hae Kyung Im, Carole Ober, Nathan Schoettler   +5 more
doaj   +1 more source

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome. [PDF]

Transl Psychiatry, 2023
AbstractTourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank ...
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D, Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), EMTICS collaborative group, Dietrich A, TS-EUROTRAIN Network, Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P.   +51 more
europepmc   +14 more sources

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Genome Medicine, 2018
Background Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear.
Junfei Zhao, Feixiong Cheng, Peilin Jia, Nancy Cox, Joshua C. Denny, Zhongming Zhao   +5 more
doaj   +1 more source

Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes

Communications Biology, 2022
A phenome-wide association study and polygenic risk score analysis identifies several loci linked to metabolic disease and type 2 diabetes in the Taiwanese population.
Chia-Jung Lee, Ting-Huei Chen, Aylwin Ming Wee Lim, Chien-Ching Chang, Jia-Jyun Sie, Pei-Lung Chen, Su-Wei Chang, Shang-Jung Wu, Chia-Lin Hsu, Ai-Ru Hsieh, Wei-Shiung Yang, Cathy S. J. Fann   +11 more
doaj   +1 more source

Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection [PDF]

, 2004
Streptococcus pneumoniae is an important human pathogen responsible for high mortality and morbidity worldwide. The susceptibility to pneumococcal infections is controlled by as yet unknown genetic factors.
Jonczyk, Magda S., Simon, Michelle, Kumar, Saumya, Fernandes, Vitor E., Sylvius, Nicolas, Mallon, Ann-Marie, Denny, Paul, Andrew, Peter W.   +7 more
core   +5 more sources

Repurposing drugs to target nonalcoholic steatohepatitis [PDF]

, 2019
Nonalcoholic fatty liver disease (NAFLD) is a complex disorder that has evolved in recent years as the leading global cause of chronic liver damage.
Pirola, Carlos José, Sookoian, Silvia Cristina   +1 more
core   +1 more source

Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study

Frontiers in Immunology, 2021
BackgroundC-reactive protein (CRP) has been used as a biomarker of chronic low-grade inflammation in observational studies. We aimed to determine whether genetically determined CRP was associated with hundreds of human phenotypes to guide anti ...
Shucheng Si, Shucheng Si, Shucheng Si, Jiqing Li, Jiqing Li, Jiqing Li, Marlvin Anemey Tewara, Fuzhong Xue, Fuzhong Xue, Fuzhong Xue   +9 more
doaj   +1 more source

Genetic regulation of mouse liver metabolite levels. [PDF]

, 2014
We profiled and analyzed 283 metabolites representing eight major classes of molecules including Lipids, Carbohydrates, Amino Acids, Peptides, Xenobiotics, Vitamins and Cofactors, Energy Metabolism, and Nucleotides in mouse liver of 104 inbred and ...
Bennett, Brian J, Che, Nam, Ghazalpour, Anatole, Hagopian, Raffi, He, Aiqing, Kayne, Paul, Kirchgessner, Todd, Lusis, Aldons J, Orozco, Luz, Pan, Calvin, Shih, Diana, Yang, Wen-pin   +11 more
core   +1 more source