Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Designing candidate gene and genome-wide case-control association studies.
PMID 17947991 · PMC4180089 · Nature protocols · 2007 · 8 claims · 4 setups
Common complex diseases are influenced by multiple genetic and environmental factors that individually are neither necessary nor sufficient to cause disease
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TFBScluster web server for the identification of mammalian composite regulatory elements.
PMID 16845063 · PMC1538905 · Nucleic acids research · 2006 · 7 claims · 5 setups
TFBScluster is a web server that identifies genome-wide clusters of TFBSs conserved in multiple mammalian species using human or mouse as the reference genome.
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Genome Wide Association Studies: identifying the genes that determine the risk of abdominal aortic aneurysm.
PMID 18621558 · PMC2697027 · European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery · 2008 · 8 claims · 3 setups
AAA has a strong genetic component, with up to ten-fold increased risk in first-degree relatives of affected individuals
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Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach.
PMID 19801557 · PMC2780952 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2009 · 6 claims · 3 setups
An SVM trained on 69 binary features of known PID genes can accurately classify PID vs non-PID genes and predict novel candidate PID genes
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Rapid identification of PAX2/5/8 direct downstream targets in the otic vesicle by combinatorial use of bioinformatics tools.
PMID 18828907 · PMC2760872 · Genome biology · 2008 · 8 claims · 8 setups
A combinatorial bioinformatics pipeline (evolutionary double filtering comparative genomics, GXD/ZFIN database queries, MEDLINE text mining) can rapidly and specifically identify PAX2/5/8 direct downstream targets in the otic vesicle
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Update of the G2D tool for prioritization of gene candidates to inherited diseases.
PMID 17478516 · PMC1933178 · Nucleic acids research · 2007 · 8 claims · 4 setups
G2D is a web server that prioritizes candidate genes for inherited diseases using three distinct algorithms based on different input information.
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Human QTL linkage mapping.
PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups
Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels
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Commonality of functional annotation: a method for prioritization of candidate genes from genome-wide linkage studies.
PMID 18263617 · PMC2275105 · Nucleic acids research · 2008 · 8 claims · 7 setups
Genes correlated with a common complex trait are more likely to share GO functional annotations than genes not correlated with that trait
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Genetics of autistic disorders: review and clinical implications.
PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups
AD are predominantly genetically determined disorders with heritability of around 90%.
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A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability.
PMID 19647519 · PMC2772893 · Molecular cell · 2009 · 8 claims · 6 setups
A genome-wide siRNA screen in HeLa cells using γH2AX as a readout identifies genes whose knockdown elevates DNA damage/genome instability
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The future is genome-wide.
PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups
Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level
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POCUS: mining genomic sequence annotation to predict disease genes.
PMID 14611661 · PMC329128 · Genome biology · 2003 · 8 claims · 6 setups
Genes predisposing to the same disease tend to share functional annotation IDs (GO/InterPro) more than expected by chance
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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Understanding genetic epidemiologic association studies Part 1: fundamentals.
PMID 19962167 · PMC2843757 · Surgery · 2010 · 8 claims · 3 setups
Genetic epidemiology aims to establish whether a disease has a genetic component while accounting for environmental influences.
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Emerging strategies and applications of pharmacogenomics.
PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups
Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.
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Molecular tumor profiling: translating genomic insights into clinical advances.
PMID 15287965 · PMC507868 · Genome biology · 2004 · 8 claims · 8 setups
Gene-expression profiling can distinguish BRCA1- and BRCA2-linked breast tumors from sporadic breast tumors with similar hormone-receptor status
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High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies.
PMID 16834767 · PMC1557740 · Breast cancer research : BCR · 2006 · 8 claims · 5 setups
Candidate polymorphism-based genetic epidemiological studies have yielded little success in identifying low-penetrance breast cancer susceptibility genes, largely due to poor genomic coverage and inadequate statistical power.
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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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Identification of novel regulatory factor X (RFX) target genes by comparative genomics in Drosophila species.
PMID 17875208 · PMC2375033 · Genome biology · 2007 · 8 claims · 4 setups
A subset of C. elegans DAF-19 target genes have Drosophila homologs that are also regulated by dRFX, showing conservation of the RFX regulatory cascade between the two species.
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Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.
PMID 17327828 · PMC2633468 · Molecular vision · 2007 · 6 claims · 5 setups
AD non-syndromic high-grade myopia in the Hutterite family MYO-101 shows significant linkage to a locus on chromosome 10q21.1