Results 21 to 30 of about 35,658 (190)

Methodology in phenome-wide association studies: a systematic review [PDF]

Journal of Medical Genetics, 2021
Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS methodology, discuss the advantages and challenges of PheWAS, and provide potential implications for future PheWAS studies.
Lijuan Wang, Xiaomeng Zhang, Xiangrui Meng, Fotios Koskeridis, Andrea Georgiou, Lili Yu, Harry Campbell, Evropi Theodoratou, Xue Li   +8 more
openaire   +2 more sources

Phenome-wide association studies go large [PDF]

Nature Reviews Genetics, 2013
openaire   +3 more sources

Identification of Druggable Genes for Asthma by Integrated Genomic Network Analysis

Biomedicines, 2022
Asthma is a common and heterogeneous disease characterized by chronic airway inflammation. Currently, the two main types of asthma medicines are inhaled corticosteroids and long-acting β2-adrenoceptor agonists (LABAs).
Wirawan Adikusuma, Wan-Hsuan Chou, Min-Rou Lin, Jafit Ting, Lalu Muhammad Irham, Dyah Aryani Perwitasari, Wei-Pin Chang, Wei-Chiao Chang   +7 more
doaj   +1 more source

How data science and AI-based technologies impact genomics

Singapore Medical Journal, 2023
Advancements in high-throughput sequencing have yielded vast amounts of genomic data, which are studied using genome-wide association study (GWAS)/phenome-wide association study (PheWAS) methods to identify associations between the genotype and phenotype.
Jing Lin, Kee Yuan Ngiam
doaj   +1 more source

Phenome-Wide Association Studies: Embracing Complexity for Discovery [PDF]

Human Heredity, 2015
The inherent complexity of biological systems can be leveraged for a greater understanding of the impact of genetic architecture on outcomes, traits, and pharmacological response. The genome-wide association study (GWAS) approach has well-developed methods and relatively straight-forward methodologies; however, the bigger picture of the impact of ...
Sarah A, Pendergrass, Anurag, Verma, Anna, Okula, Molly A, Hall, Dana C, Crawford, Marylyn D, Ritchie   +5 more
openaire   +2 more sources

Genome-Wide Association Studies of Soybean Yield-Related Hyperspectral Reflectance Bands Using Machine Learning-Mediated Data Integration Methods

Frontiers in Plant Science, 2021
In conjunction with big data analysis methods, plant omics technologies have provided scientists with cost-effective and promising tools for discovering genetic architectures of complex agronomic traits using large breeding populations.
Mohsen Yoosefzadeh-Najafabadi, Sepideh Torabi, Dan Tulpan, Istvan Rajcan, Milad Eskandari   +4 more
doaj   +1 more source

Phenome-wide association studies (PheWASs) for functional variants [PDF]

European Journal of Human Genetics, 2014
The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS is a phenotype-to-genotype approach.
Zhan, Ye, John, Mayer, Lynn, Ivacic, Zhiyi, Zhou, Min, He, Steven J, Schrodi, David, Page, Murray H, Brilliant, Scott J, Hebbring   +8 more
openaire   +2 more sources

CoPheScan: phenome-wide association studies accounting for linkage disequilibrium

Nature Communications, 2023
AbstractPhenome-wide association studies (PheWAS) facilitate the discovery of associations between a single genetic variant with multiple phenotypes. For variants which impact a specific protein, this can help identify additional therapeutic indications or on-target side effects of intervening on that protein.
Ichcha Manipur, Guillermo Reales, Jae Hoon Sul, Myung Kyun Shin, Simonne Longerich, Adrian Cortes, Chris Wallace   +6 more
openaire   +3 more sources

Current Scope and Challenges in Phenome-Wide Association Studies [PDF]

Current Epidemiology Reports, 2017
Over many decades, researchers have been designing studies to investigate the relationship between genotypes and phenotypes to gain an understanding about the effect of genetics on disease. Recently, a high-throughput approach called phenome-wide associations studies (PheWAS) have been extensively used to identify associations between genetic variants ...
Anurag, Verma, Marylyn D, Ritchie
openaire   +2 more sources

A deep learning phenome wide association study of the electrocardiogram. [PDF]

Eur Heart J Digit Health
Abstract Aims Deep learning methods have shown impressive performance in detecting a range of diseases from electrocardiogram (ECG) waveforms, but the breadth of diseases that can be detected with high accuracy remains unknown, and in many cases the changes to the ECG allowing these classifications ...
Hughes JW, Theurer J, Vukadinovic M, Rogers AJ, Somani S, Kang G, Ghazizadeh Z, O'Sullivan JW, Jain SS, Gomes B, Salerno M, Ashley E, Zou JY, Perez MV, Ouyang D.   +14 more
europepmc   +2 more sources