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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Association of MUTYH and colorectal cancer.
PMID 16804517 · PMC2360610 · British journal of cancer · 2006 · 7 claims · 3 setups
Bi-allelic MUTYH mutations confer a very large increase in colorectal cancer risk (GRR=117), supporting a causal role in colorectal cancer
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MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and meta-analysis.
PMID 19925624 · PMC3071567 · Headache · 2010 · 6 claims · 3 setups
The MTHFR 677TT genotype is associated with increased risk of migraine with aura but not migraine without aura
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Has reproduction · 87
NK2R control of energy expenditure and feeding to treat metabolic diseases.
PMID 39537932 · PMC11602716 · Nature · 2024 · 8 claims · 8 setups
NK2R activation is sufficient to suppress appetite centrally and increase energy expenditure peripherally
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The impact of new research technologies on our understanding of environmental causes of disease: the concept of clinical vulnerability.
PMID 19948053 · PMC2793242 · Environmental health : a global access science source · 2009 · 8 claims · 8 setups
GWAS-identified genetic variants confer only modest relative risks (1.15-1.5), comparable in magnitude to weak/contested environmental exposures
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Public health genomics: translating obesity genomics research into population health benefits.
PMID 19037221 · PMC2736102 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 6 setups
Obesity genomics research is mostly in the discovery phase (T1); a four-phase translational framework (T1-T4) is needed to move discoveries to population health impact
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Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.
PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups
The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study
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Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.
PMID 18414673 · PMC2289874 · PloS one · 2008 · 6 claims · 7 setups
SPINK1 N34S is strongly associated with chronic pancreatitis overall
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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mtDNA nt13708A variant increases the risk of multiple sclerosis.
PMID 18270557 · PMC2217590 · PloS one · 2008 · 8 claims · 5 setups
The mtDNA nt13708 G/A polymorphism (nt13708A allele) is significantly associated with increased risk of MS (OR=1.71, P=0.0002) across three well-matched European cohorts.
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Investigating the genetic association between ERAP1 and ankylosing spondylitis.
PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups
The genetic association between ERAP1 and AS is confirmed in an independent replication cohort
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Has reproduction · 82
Landscape of allele-specific transcription factor binding in the human genome.
PMID 33980847 · PMC8115691 · Nature communications · 2021 · 8 claims · 6 setups
A novel statistical framework (ADASTRA) calls allele-specific TF binding from existing ChIP-Seq alignments by jointly correcting for background allelic dosage (BAD, from aneuploidy/CNVs) and reference mapping bias.
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Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.
PMID 20044523 · PMC2923092 · Stroke · 2010 · 8 claims · 6 setups
SNP rs2208454 in intron 3 of MACROD2 (near FLRT3, chr20p12) is associated with lower risk of covert MRI-infarcts (OR=0.76, p=4.64x10-7)
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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups
The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD
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Association of the MAPT locus with Parkinson's disease.
PMID 19912324 · PMC3906622 · European journal of neurology · 2010 · 7 claims · 5 setups
H1/H2-tagging SNPs rs1052553 (MAPT) and rs62063857 (Saitohin/STH) are significantly associated with increased risk of PD
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Has reproduction · 100
Lipopolysaccharide distinctively alters human microglia transcriptomes to resemble microglia from Alzheimer's disease mouse models.
PMID 36254682 · PMC9612871 · Disease models & mechanisms · 2022 · 8 claims · 8 setups
iPSC-microglia show a shared core transcriptional response to ATPγS and to LPS+IFN-γ, suggesting a convergent mechanism of action
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Nutrigenomics in cardiovascular medicine.
PMID 20031645 · PMC2810265 · Circulation. Cardiovascular genetics · 2009 · 8 claims · 8 setups
The main problem facing Nutrigenomics is the lack of replication of initially reported gene-diet interactions, which precludes their present application in CVD prevention and treatment.
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Considerations regarding the genetics of obesity.
PMID 19037210 · PMC2682366 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Genetic factors account for 40-70% of the variance in human adiposity