10 Years of GWAS Discovery: Biology, Function, and Translation

2017/07/01 by Peter M. Visscher, Naomi R. Wray, Qian Zhang +4 · 85 citations
Biochemistry, Genetics and Molecular Biology · #Glycosylation and Glycoproteins Research #Genomics and Phylogenetic Studies #Machine Learning in Bioinformatics

paper · pdf · doi:10.1016/j.ajhg.2017.06.005

Cited by

• High-powered, longitudinal mapping reveals genotype-phenotype stability and an unpredictable genetic architecture of adaptation
• A local score approach improves GWAS resolution and detects minor QTL: application to Medicago truncatula quantitative disease resistance to multiple Aphanomyces euteiches isolates
• Chimeric reference panels for genomic imputation
• The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table
• Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene
• Genome‐wide association studies: utility and limitations for research in physiology
• Extreme Polygenicity of Complex Traits Is Explained by Negative Selection
• Galton's Quincunx: Probabilistic causation in developmental behavior genetics
• Planting Genomes in the Wild: Arabidopsis from Genetics History to the Ecology and Evolutionary Genomics Era
• Improving Mendelian Randomization Analysis by Instrument Borrowing from Auxiliary Outcome Traits
• Sources of gene expression variation in a globally diverse human cohort
• Causal Estimation with Functional Confounders
• Beyond Mendel: a call to revisit the genotype–phenotype map through new experimental paradigms
• Genome-wide analysis of brain age identifies 59 associated loci and unveils relationships with mental and physical health
• The selection landscape and genetic legacy of ancient Eurasians
• Multiple-trait Adaptive Fisher's Method for Genome-wide Association Studies
• Spatial transcriptomics and genetically implicated genes identify putative causal tissue structures for complex traits
• Bayesian Weighted Mendelian Randomization for Causal Inference based on Summary Statistics
• The transition from preclinical to clinical obesity: the importance of a borderline stage
• Archaic hominin admixture and its consequences for modern humans
• Population-scale chemical response revealed by a barcoded yeast collection
• Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery
• The Fortunes of Genomic Medicine: A Quarter Century of Promise
• Integration of Genomics with Crop Modeling for Predicting Rice Days to Flowering: A Multi-Model Analysis
• Leveraging low-cost short-read sequencing: revolutionizing complex trait genetics
• Allele-specific genomics decodes gene targets and mechanisms of the non-coding genome
• Predicting the functional impact of single nucleotide variants in Drosophila melanogaster with FlyCADD
• Neural Signatures of Cannabis Use: Reversing Cognitive Aging via Whole-Brain Functional Network Connectivity
• Reproducible brain-wide association studies require thousands of individuals
• rMVP: A Memory-Efficient, Visualization-Enhanced, and Parallel-Accelerated Tool for Genome-Wide Association Study
• Genomic index selection provides a pragmatic framework for setting and refining multi-objective breeding targets in Miscanthus
• Taxonomic-free metagenome GWAS to identify gut microbiome functions influencing host phenotypes
• Ideas and perspectives: How sediment archives can improve model projections of marine ecosystem change
• Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues
• Polygenic risk for alcohol use disorder affects cellular responses to ethanol exposure in a human microglial cell model
• Predicting Forest Tree Leaf Phenology Under Climate Change Using Satellite Monitoring and Population‐Based Genomic Trait Association
• On the potential for GWAS with phenotypic population means and allele-frequency data (popGWAS)
• Single-nucleus multi-omics identifies shared and distinct pathways in Pick’s and Alzheimer’s disease
• The Blessings of Multiple Causes
• New approaches to uncover COPD pathobiology and develop therapies
• Genome-wide associations of leaf spectral variation in MAGIC lines of Nicotiana attenuata
• A novel genome-wide association study method for detecting quantitative trait loci interacting with complex population structures in plant genetics
• On the potential for GWAS with phenotypic population means and allele-frequency data (popGWAS)
• Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome
• The personal and clinical utility of polygenic risk scores
• Metabolic plasticity and adaptive evolution in Fragaria vesca: bridging wild diversity to crop improvement
• Top-k Feature Importance Ranking
• Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data
• Genome-wide association studies
• Genomic regions affecting perinatal and early life survival in dairy calves
• JanusX: an integrated and high-performance platform for scalable genome-wide association studies and genomic selection
• A Review of Feature Selection Methods for Machine Learning-Based Disease Risk Prediction
• Turning genome-wide association study findings into opportunities for drug repositioning
• Determining the driving factors shaping genetic architecture of complex traits in recently admixed populations
• Polygenic and monogenic adaptation drive evolutionary rescue at different magnitudes of environmental change
• Genetic analysis of neurodegenerative diseases
• Exploring the roles of conserved context‐dependent cis‐regulatory elements ( cdCREs ) in multicellularity, human health and disease
• Predicting the functional impact of single nucleotide variants in Drosophila melanogaster with FlyCADD
• Machine learning in Alzheimer’s disease genetics
• Reading tea leaves? Polygenic scores and differences in traits among\n groups
• Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. [europepmc]
• The MR-Base platform supports systematic causal inference across the human phenome. [europepmc]
• Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. [europepmc]
• Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. [europepmc]
• Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry. [europepmc]
• Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. [europepmc]
• Leveraging Polygenic Functional Enrichment to Improve GWAS Power. [europepmc]
• An atlas of genetic influences on osteoporosis in humans and mice. [europepmc]
• Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. [europepmc]
• A statistical framework for cross-tissue transcriptome-wide association analysis. [europepmc]
• Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation. [europepmc]
• Genetic mapping of cell type specificity for complex traits. [europepmc]
• Comparative genetic architectures of schizophrenia in East Asian and European populations. [europepmc]
• Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses. [europepmc]
• Quantifying genetic effects on disease mediated by assayed gene expression levels. [europepmc]
• From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases. [europepmc]
• The Polygenic and Monogenic Basis of Blood Traits and Diseases. [europepmc]
• Functionally informed fine-mapping and polygenic localization of complex trait heritability. [europepmc]
• Regulatory genomic circuitry of human disease loci by integrative epigenomics. [europepmc]
• Reproducible brain-wide association studies require thousands of individuals. [europepmc]
• Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. [europepmc]
• Fine-mapping from summary data with the "Sum of Single Effects" model. [europepmc]
• A saturated map of common genetic variants associated with human height. [europepmc]
• A Review of Feature Selection Methods for Machine Learning-Based Disease Risk Prediction. [europepmc]
• Causal relationship between gut microbiota and cancers: a two-sample Mendelian randomisation study. [europepmc]