Results 31 to 40 of about 10,755 (158)

Phenome‐Wide Association Study of Severe COVID‐19 Genetic Risk Variants [PDF]

Journal of the American Heart Association, 2021
Abstract Background Genetic loci associated with risk of severe COVID-19 infection have been identified and individuals with complicated COVID-19 infections often have multiple comorbidities.
Jessica A. Regan, Jawan Abdulrahim, Nathan Bihlmeyer, Carol Haynes, Lydia Coulter Kwee, Manesh Patel, Svati H. Shah   +6 more
openaire   +4 more sources

SAIGE-GPU: accelerating genome- and phenome-wide association studies using GPUs. [PDF]

Bioinformatics
Abstract Motivation Genome-wide association studies (GWAS) at biobank scale are computationally intensive, especially for admixed populations requiring robust statistical models. SAIGE is a widely used method for generalized linear mixed-model GWAS but is limited by its CPU-based implementation,
Rodriguez A, Kim Y, Nandi TN, Keat K, Kumar R, Conery M, Bhukar R, Liu M, Hessington J, Maheshwari K, VA Million Veteran Program , Begoli E, Tourassi G, Muralidhar S, Natarajan P, Voight BF, Cho K, Gaziano JM, Damrauer SM, Liao KP, Zhou W, Huffman JE, Verma A, Madduri RK.   +23 more
europepmc   +3 more sources

Profiling phenome-wide associations: a population-based observational study [PDF]

Journal of the American Medical Informatics Association, 2015
Abstract Objectives To objectively characterize phenome-wide associations observed in the entire Taiwanese population and represent them in a meaningful, interpretable way. Study Design In this population-based observational study, we analyzed 782 million outpatient visits and 15 394 unique phenotypes that were observed in
Syed Abdul Shabbir, Max Moldovan, Phung Anh Nguyen, Ruslan Enikeev, Wen-Shan Jian, Usman Iqbal, Min-Huei Hsu, Yu-Chuan Li   +7 more
openaire   +2 more sources

Genome‐wide pathogenesis interpretation using a heat diffusion‐based systems genetics method and implications for gene function annotation

Molecular Genetics & Genomic Medicine, 2020
Background Genetics is best dedicated to interpreting pathogenesis and revealing gene functions. The past decade has witnessed unprecedented progress in genetics, particularly in genome‐wide identification of disorder variants through Genome‐Wide ...
Yuan Quan, Qing‐Ye Zhang, Bo‐Min Lv, Rui‐Feng Xu, Hong‐Yu Zhang   +4 more
doaj   +1 more source

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children [PDF]

Scientific Reports, 2016
AbstractTo dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma and Allergies in Children) Phase II tools.
Karaca, Sefayet, Civelek, Ersoy, Karaca, Mehmet, Sahiner, Umit M., Ozgul, Riza K., Kocabas, Can N., Polimanti, Renato, Sekerel, Bulent E.   +7 more
openaire   +5 more sources

Phenome-wide association study on miRNA-related sequence variants: the UK Biobank

Human Genomics, 2023
AbstractBackgroundGenetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. However, the importance of variants in the non-coding region, such as microRNAs (miRNAs), remain to be elucidated.
Mustafa, R, Ghanbari, M, Karhunen, V, Evangelou, M, Dehghan, A   +4 more
openaire   +5 more sources

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

BMC Cardiovascular Disorders, 2019
Background We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. Methods Published and individual participant level data (300,000+ participants)
Amand F. Schmidt, Michael V. Holmes, David Preiss, Daniel I. Swerdlow, Spiros Denaxas, Ghazaleh Fatemifar, Rupert Faraway, Chris Finan, Dennis Valentine, Zammy Fairhurst-Hunter, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hypponen, Christine Power, Max Moldovan, Erik van Iperen, Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Christina M. Lill, Stefan Coassin, Johann Willeit, Stefan Kiechl, Karin Willeit, Dan Mason, John Wright, Richard Morris, Goya Wanamethee, Peter Whincup, Yoav Ben-Shlomo, Stela McLachlan, Jackie F. Price, Mika Kivimaki, Catherine Welch, Adelaida Sanchez-Galvez, Pedro Marques-Vidal, Andrew Nicolaides, Andrie G. Panayiotou, N. Charlotte Onland-Moret, Yvonne T. van der Schouw, Giuseppe Matullo, Giovanni Fiorito, Simonetta Guarrera, Carlotta Sacerdote, Nicholas J. Wareham, Claudia Langenberg, Robert A. Scott, Jian’an Luan, Martin Bobak, Sofia Malyutina, Andrzej Pająk, Ruzena Kubinova, Abdonas Tamosiunas, Hynek Pikhart, Niels Grarup, Oluf Pedersen, Torben Hansen, Allan Linneberg, Tine Jess, Jackie Cooper, Steve E. Humphries, Murray Brilliant, Terrie Kitchner, Hakon Hakonarson, David S. Carrell, Catherine A. McCarty, Kirchner H. Lester, Eric B. Larson, David R. Crosslin, Mariza de Andrade, Dan M. Roden, Joshua C. Denny, Cara Carty, Stephen Hancock, John Attia, Elizabeth Holliday, Rodney Scott, Peter Schofield, Martin O’Donnell, Salim Yusuf, Michael Chong, Guillaume Pare, Pim van der Harst, M. Abdullah Said, Ruben N. Eppinga, Niek Verweij, Harold Snieder, Lifelines Cohort authors, Tim Christen, D. O. Mook-Kanamori, the ICBP Consortium, Stefan Gustafsson, Lars Lind, Erik Ingelsson, Raha Pazoki, Oscar Franco, Albert Hofman, Andre Uitterlinden, Abbas Dehghan, Alexander Teumer, Sebastian Baumeister, Marcus Dörr, Markus M. Lerch, Uwe Völker, Henry Völzke, Joey Ward, Jill P. Pell, Tom Meade, Ingrid E. Christophersen, Anke H. Maitland-van der Zee, Ekaterina V. Baranova, Robin Young, Ian Ford, Archie Campbell, Sandosh Padmanabhan, Michiel L. Bots, Diederick E. Grobbee, Philippe Froguel, Dorothée Thuillier, Ronan Roussel, Amélie Bonnefond, Bertrand Cariou, Melissa Smart, Yanchun Bao, Meena Kumari, Anubha Mahajan, Jemma C. Hopewell, Sudha Seshadri, the METASTROKE Consortium of the ISGC, Caroline Dale, Rui Providencia E. Costa, Paul M. Ridker, Daniel I. Chasman, Alex P. Reiner, Marylyn D. Ritchie, Leslie A. Lange, Alex J. Cornish, Sara E. Dobbins, Kari Hemminki, Ben Kinnersley, Marc Sanson, Karim Labreche, Matthias Simon, Melissa Bondy, Philip Law, Helen Speedy, James Allan, Ni Li, Molly Went, Niels Weinhold, Gareth Morgan, Pieter Sonneveld, Björn Nilsson, Hartmut Goldschmidt, Amit Sud, Andreas Engert, Markus Hansson, Harry Hemingway, Folkert W. Asselbergs, Riyaz S. Patel, Brendan J. Keating, Naveed Sattar, Richard Houlston, Juan P. Casas, Aroon D. Hingorani   +167 more
doaj   +1 more source

Scalable and Robust Regression Methods for Phenome-Wide Association Analysis on Large-Scale Biobank Data

Frontiers in Genetics, 2021
With the advances in genotyping technologies and electronic health records (EHRs), large biobanks have been great resources to identify novel genetic associations and gene-environment interactions on a genome-wide and even a phenome-wide scale.
Wenjian Bi, Wenjian Bi, Wenjian Bi, Seunggeun Lee   +3 more
doaj   +1 more source

Efficient Genome-wide Association in Biobanks Using Topic Modeling Identifies Multiple Novel Disease Loci

Molecular Medicine, 2017
Biobanks and national registries represent a powerful tool for genomic discovery, but rely on diagnostic codes that can be unreliable and fail to capture relationships between related diagnoses.
Thomas H. McCoy, Victor M. Castro, Leslie A. Snapper, Kamber L. Hart, Roy H. Perlis   +4 more
doaj   +1 more source

The causes and consequences of Alzheimer’s disease: phenome-wide evidence from Mendelian randomization

Nature Communications, 2022
Observational studies have found overlap between Alzheimer’s disease and other diseases and phenotypes, although the causal relationships are unclear. Here, the authors perform an age-stratified phenome-wide association study of Alzheimer’s disease (AD ...
Roxanna Korologou-Linden, Laxmi Bhatta, Ben M. Brumpton, Laura D. Howe, Louise A. C. Millard, Katarina Kolaric, Yoav Ben-Shlomo, Dylan M. Williams, George Davey Smith, Emma L. Anderson, Evie Stergiakouli, Neil M. Davies   +11 more
doaj   +1 more source