Genomewide association studies and assessment of the risk of disease.

By Teri Manolio. New England Journal of Medicine, 2010

1,615 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/6d623e92030a13dbd87ad6e99dc83b1e773f4320

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In Genetics

Citations in the corpus

Extracting research-quality phenotypes from electronic health records to support precision medicine (2015, background): “Since the completion of the Human Genome Project in 2003, genome-wide association studies (GWASs) alone have markedly accelerated our search for genetic influences on diseases [1], resulting in the identification of more than 10,000 single nucleotide polymorphisms (SNPs) associated with over 250 dif”
A Neural Autoencoder Approach for Document Ranking and Query Refinement in Pharmacogenomic Information Retrieval (2018, background): “They describe biomarker relationships between key entity types: Disease , Protein/Gene , Variant/Mutation , Drug , and Patient Outcome (Outcome) (Manolio, 2010).”
Detecting gene-gene interactions using a permutation-based random forest method (2016, background): “Genome-wide association studies (GWASs) have revolutionized the strategy for identification effects of single nucleotide polymorphisms (SNPs) on disease susceptibility and detecting genetic architectures underlying complex diseases from large-scale genotyping data, such as type II diabetes, obesity ”
Estimating missing heritability for disease from genome-wide association studies. (2011, background): “Genome-wide association studies (GWAS) have reported hundreds of SNPs that are robustly associated with one or more complex traits, including quantitative traits and common disease.(9) Typically, the associated SNPs in total only explain a small proportion of the genetic variation in the population,”
Genome-partitioning of genetic variation for complex traits using common SNPs (2011, background): “GWAS have provided insight into biology through the discovery of pathways that were previously not known to be involved in the trait and the discovery of genes and pathways that are common to two or more complex trait”
Impact of Climate Change on Crops Adaptation and Strategies to Tackle Its Outcome: A Review (2019, background): “Genome wide association studies (GWAS) is a powerful tool for understanding the complete set of genetic variants in different crop cultivars to recognize allelic variant linked with any specific trait [144].”
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits (2012, background): “(2) For the tth step, calculate the P values of all the remaining SNPs conditional on the SNP(s) that have already been selected in the model.”
Update on acute coronary syndromes: the pathologists' view. (2013, background): “promise, genetic testing for susceptibility has not proven useful for risk stratification.(140,141)”
Research review: Polygenic methods and their application to psychiatric traits. (2014, background): “The aims and outcomes of these genome-wide association studies (GWAS) have been reviewed elsewhere (Manolio, 2010; Visscher, Brown, McCarthy, & Yang, 2012).”
Atopic dermatitis: a disease of altered skin barrier and immune dysregulation (2011, background): “More recently, genome-wide association studies (GWASs) have been introduced as an unbiased approach to search for genes controlling the risk for complex diseases (30).”
Linking disease associations with regulatory information in the human genome (2012, background): “Long QT syndrome is more prevalent in women (Hashiba 1978; Locati et al. 1998), the menstrual cycle affects the QT interval (Nakagawa et al. 2006), and estrogen therapy has been shown to affect the duration of the QT interval in postmenopausal women (Kadish et al. 2004; Gökcxe et al. 2005).”