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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What can genome-wide association studies tell us about the genetics of common disease?
PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups
Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants
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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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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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Isolated populations and complex disease gene identification.
PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups
Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.
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Systems genetics of alcoholism.
PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups
Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.
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Information extraction from full text scientific articles: where are the keywords?
PMID 12775220 · PMC166134 · BMC bioinformatics · 2003 · 8 claims · 5 setups
The keyword content of the five article sections (A, I, M, R, D) is heterogeneous, i.e., different sections carry different kinds of information.
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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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An analysis of human microRNA and disease associations.
PMID 18923704 · PMC2559869 · PloS one · 2008 · 8 claims · 8 setups
MicroRNAs tend to show similar dysfunctional evidence (both up- or both down-regulated) for diseases within the same disease cluster, and different dysfunctional evidence between different disease clusters.
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Has reproduction · 93
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.
PMID 37563310 · PMC10457199 · Nature immunology · 2023 · 8 claims · 8 setups
Genome-wide pQTL mapping of 91 inflammation-related plasma proteins in 14,824 participants identified 180 significant pQTLs (59 cis, 121 trans) across 108 genomic regions and 70 proteins
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Short tandem repeats in human exons: a target for disease mutations.
PMID 18789129 · PMC2543027 · BMC genomics · 2008 · 8 claims · 6 setups
STRs are present in exons of 92% of known human genes, unlike longer tandem repeats which are rare in exons
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Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?
PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups
The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term
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The UCSC Genome Browser Database: 2008 update.
PMID 18086701 · PMC2238835 · Nucleic acids research · 2008 · 8 claims · 8 setups
The UCSC Genome Browser Database (GBD) provides integrated sequence and annotation data for a large collection of vertebrate and model organism genomes.