Filters








5,395 Hits in 4.2 sec

Implicit Causal Models for Genome-wide Association Studies [article]

Dustin Tran, David M. Blei
2017 arXiv   pre-print
For the first, we describe implicit causal models, a class of causal models that leverages neural architectures with an implicit density.  ...  For the second, we describe an implicit causal model that adjusts for confounders by sharing strength across examples.  ...  Causality with population-confounders has primarily been studied for genome-wide association studies (GWAS).  ... 
arXiv:1710.10742v1 fatcat:cu3hbwu2vjbqhdcd6nk3slbwlm

Genomweite Assoziationsstudien

D Grimm, H Blum, R Thimme
2011 Deutsche Medizinische Wochenschrift  
For the first, we describe implicit causal models, a class of causal models that leverages neural architectures with an implicit density.  ...  For the second, we describe an implicit causal model that adjusts for confounders by sharing strength across examples.  ...  Causality with population-confounders has primarily been studied for genome-wide association studies (GWAS).  ... 
doi:10.1055/s-0030-1269446 pmid:21225557 fatcat:fodl7ef35fafxbav7kde47v3mu

Familial Risk and a Genome-Wide Supported DRD2 Variant for Schizophrenia Predict Lateral Prefrontal-Amygdala Effective Connectivity During Emotion Processing

Tiziana Quarto, Isabella Paparella, Davide De Tullio, Giovanna Viscanti, Leonardo Fazio, Paolo Taurisano, Raffaella Romano, Antonio Rampino, Rita Masellis, Teresa Popolizio, Pierluigi Selvaggi, Giulio Pergola (+2 others)
2017 Schizophrenia Bulletin  
Finally, we investigated in HC association of LPFC-amygdala effective connectivity with a genome-wide supported variant increasing genetic risk for SCZ and possibly relevant to emotion processing (DRD2  ...  Key words: endophenotype/DRD2 rs2514218/dynamic causal model/implicit emotion processing/explicit emotion processing  ...  We also would like to express our thanks to all the volunteers for having participated to the study.  ... 
doi:10.1093/schbul/sbx128 pmid:28981847 fatcat:5qvxhw2mdfhjbl7zbarx5vx6aa

What are genome-wide association studies telling us about B-cell tumor development?

Amy L Sherborne, Richard S Houlston
2010 OncoTarget  
The advent of genome-wide association studies (GWAS) has allowed the search for this class of susceptibility allele to be conducted on a genome-wide basis.  ...  It has long been speculated that common genetic variation influences the development of B-cell malignancy, however until recently evidence for this assertion was lacking.  ...  genome-wIde AssocIAtIon studIes of cll And All To identify common disease causing alleles for CLL and ALL we have recently conducted GWA studies of these diseases using a two-stage strategy [8] [9] [10  ... 
doi:10.18632/oncotarget.100904 pmid:21307401 pmcid:PMC3157732 fatcat:ey6vrlpp7bfvrp35vzx3l7r53m

What are genome-wide association studies telling us about B-cell tumor development?

2010 OncoTarget  
The advent of genome-wide association studies (GWAS) has allowed the search for this class of susceptibility allele to be conducted on a genome-wide basis.  ...  It has long been speculated that common genetic variation influences the development of B-cell malignancy, however until recently evidence for this assertion was lacking.  ...  genome-wIde AssocIAtIon studIes of cll And All To identify common disease causing alleles for CLL and ALL we have recently conducted GWA studies of these diseases using a two-stage strategy [8] [9] [10  ... 
doi:10.18632/oncotarget.169 fatcat:ek7c5r4bwzabxljx4inev26pz4

Admixed Populations Improve Power for Variant Discovery and Portability in Genome-wide Association Studies [article]

Meng Lin, Danny S. Park, Noah A. Zaitlen, Brenna M. Henn, Christopher R. Gignoux
2021 bioRxiv   pre-print
Genome-wide association studies (GWAS) are primarily conducted in single-ancestry settings.  ...  1,000 causal SNPs, training on 10,000 individuals, testing on 1,000 in each population, p=3.78e-6, 6.19e-101, ~0 for FST = 0.2, 0.5, 0.8, respectively).  ...  Introduction Genome-wide association studies (GWAS) have allowed for significant progress in the field of human complex traits.  ... 
doi:10.1101/2021.03.09.434643 fatcat:bix56ycbxjcrdl47puqqvaf4ca

Admixed Populations Improve Power for Variant Discovery and Portability in Genome-Wide Association Studies

Meng Lin, Danny S. Park, Noah A. Zaitlen, Brenna M. Henn, Christopher R. Gignoux
2021 Frontiers in Genetics  
Genome-wide association studies (GWAS) are primarily conducted in single-ancestry settings.  ...  1,000 causal SNPs, training on 10,000 individuals, testing on 1,000 in each population, p = 3.78e-6, 6.19e-101, ∼0 for FST = 0.2, 0.5, 0.8, respectively).  ...  INTRODUCTION Genome-wide association studies (GWAS) have allowed for significant progress in the field of human complex traits.  ... 
doi:10.3389/fgene.2021.673167 pmid:34108994 pmcid:PMC8181458 fatcat:en5qxr237rezjjklacz6sljngu

Genome-wide approaches in pharmacogenomics: heritability estimation and pharmacoethnicity as primary challenges

Eric R Gamazon, Minoli Perera
2012 Pharmacogenomics (London)  
Acknowledgments ER Gamazon gratefully acknowledges NJ Cox for her continued support.  ...  Meanwhile, methodological advances, such as the genome-wide association study (GWAS) approach, have facilitated the discovery of genetic variation with considerable clinical relevance [3] .  ...  Genetic studies in admixed populations can facilitate the fine-mapping and identification of causal variants in regions of the genome first identified in studies involving European samples [31] .  ... 
doi:10.2217/pgs.12.88 pmid:22909197 pmcid:PMC3710727 fatcat:obcoqxb74bb5bew6lb5szdw2qu

Transethnic differences in GWAS signals: A simulation study

Daniela Zanetti, Michael E. Weale
2018 Annals of Human Genetics  
K E Y W O R D S Causal SNP, complex human diseases, genome-wide association studies, transethnic differences Ann Hum Genet. 2018;1-7.  ...  Genome-wide association studies (GWASs) have allowed researchers to identify thousands of single nucleotide polymorphisms (SNPs) and other variants associated with particular complex traits.  ...  INTRODUCTION In the past decade, through collaborative efforts and with the aid of genome-wide association studies (GWASs), the genetic basis of common complex traits has been greatly clarified (for examples  ... 
doi:10.1111/ahg.12251 pmid:29733446 fatcat:dhtruj5akza55k4dxcfecocjmq

Varmole: A biologically drop-connect deep neural network model for prioritizing disease risk variants and genes [article]

Nam D Nguyen, Daifeng Wang
2020 bioRxiv   pre-print
Population studies such as GWAS have identified a variety of genomic variants associated with human diseases.  ...  However, how to interpret molecular mechanisms from such associations, especially across omics is still challenging.  ...  For example, genome-wide association study (GWAS) analyses have identified a number of disease risk single-nucleotide polymorphisms (SNPs) from population genetic data.  ... 
doi:10.1101/2020.03.02.973743 fatcat:olvp76azdndalgt6kt56n6np4a

Moving towards causality in attention-deficit hyperactivity disorder: overview of neural and genetic mechanisms

Eduardo F Gallo, Jonathan Posner
2016 Lancet psychiatry  
Furthermore, we review approaches being developed to understand the neurobiological underpinnings of this complex disorder including the use of animal models, neuromodulation, and pharmaco-imaging studies  ...  Whether these underlying neurobiological factors are causally related to symptom presentation remains unresolved.  ...  GWAS=genome-wide association studies Lancet Psychiatry.  ... 
doi:10.1016/s2215-0366(16)00096-1 pmid:27183902 pmcid:PMC4893880 fatcat:3upskqxfvnamvldhrds6ybowru

The functional impact of structural variation in humans

Matthew E. Hurles, Emmanouil T. Dermitzakis, Chris Tyler-Smith
2008 Trends in Genetics  
Structural variation includes many different types of chromosomal rearrangement and encompasses millions of bases in every human genome.  ...  As disparate indications of the important biological consequences of genome dynamism are accumulating rapidly, we review the evidence that structural variation has an appreciable impact on cellular phenotypes  ...  Genomewide association studies are currently only practicable using SNPs, and allow the detection of associated haplotypes containing the causal variant.  ... 
doi:10.1016/j.tig.2008.03.001 pmid:18378036 pmcid:PMC2869026 fatcat:lrq2wsfj5za73dtmm3zvq6aqz4

Genetic association and causal inference converge on hyperglycaemia as a modifiable factor to improve lung function

William R Reay, Sahar I El Shair, Michael P Geaghan, Carlos Riveros, Elizabeth G Holliday, Mark A McEvoy, Stephen Hancock, Roseanne Peel, Rodney J Scott, John R Attia, Murray J Cairns
2021 eLife  
A transcriptome-wide association study (TWAS) of lung function was then performed which identified several drug-gene interactions with predicted lung function increasing modes of action.  ...  In summary, we provided genetic justification for a number of novel drug repurposing opportunities that could improve lung function.  ...  We further adjusted each of these models for genome-wide PGS at the same P T for which the PES was calculated.  ... 
doi:10.7554/elife.63115 fatcat:p2rl4nlegjd55cvqlyqzbcqi6y

Varmole: A biologically drop-connect deep neural network model for prioritizing disease risk variants and genes

Nam D Nguyen, Ting Jin, Daifeng Wang, Anthony Mathelier
2020 Bioinformatics  
Summary Population studies such as genome-wide association study (GWAS) have identified a variety of genomic variants associated with human diseases.  ...  However, how to interpret molecular mechanisms from such associations, especially across omics, is still challenging.  ...  Introduction Statistical analyses have associated a variety of genomic variants with phenotypes in human diseases such as cancers and brain disorders.  ... 
doi:10.1093/bioinformatics/btaa866 pmid:33031552 pmcid:PMC8289382 fatcat:gz3wayjoqvdcjfm5jxzykh2r6e

Methodology for the analysis of rare genetic variation in genome-wide association and re-sequencing studies of complex human traits

L. Moutsianas, A. P. Morris
2014 Briefings in Functional Genomics  
Genome-wide association studies have been successful in identifying common variants that impact complex human traits and diseases.  ...  In this review, we describe a general framework for modelling the joint effects of rare genetic variants on complex traits in association studies of unrelated individuals.  ...  Traditional statistical methods for the analysis of common SNPs in genome-wide association studies are underpowered for rare variants.  ... 
doi:10.1093/bfgp/elu012 pmid:24916163 pmcid:PMC4168660 fatcat:nftvlmgwyvg2xg5vrpyuqf57vq
« Previous Showing results 1 — 15 out of 5,395 results