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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Genome-wide association studies in neurological disorders.
PMID 18940696 · PMC2824165 · The Lancet. Neurology · 2008 · 8 claims · 6 setups
GWAS can identify common genetic variability associated with a trait across the whole genome, avoiding the bias and low throughput of candidate-gene studies
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Has reproduction · 92
A network-guided protocol to discover susceptibility genes in genome-wide association studies using stability selection.
PMID 36609152 · PMC9850185 · STAR protocols · 2023 · 5 claims · 5 setups
The protocol identifies genes that are both statistically associated with a phenotype and functionally interconnected in a biological network
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Prostate cancer genomics: towards a new understanding.
PMID 19104501 · PMC2721916 · Nature reviews. Genetics · 2009 · 8 claims · 8 setups
Multiple GWAS have identified over a dozen replicated germline SNPs each associated with a modest increase in prostate cancer risk
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Has reproduction · 90
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
PMID 30833571 · PMC6399342 · Nature communications · 2019 · 8 claims · 8 setups
16 genome-wide significant susceptibility loci for CTS were identified in UK Biobank
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Has reproduction · 23
Partial correlation network analysis identifies coordinated gene expression within a regional cluster of COPD genome-wide association signals.
PMID 39418301 · PMC11521246 · PLoS computational biology · 2024 · 7 claims · 4 setups
COPD GWAS loci are more spatially clustered across the genome than expected by chance, with significant enrichment on chromosome 4q.
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Has reproduction
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
PMID 30578418 · PMC6365102 · Nature genetics · 2019 · 8 claims · 8 setups
Discovery and replication GWAS of SBP, DBP and pulse pressure in up to 776,078 individuals identified 208 novel common blood pressure SNPs and 53 rare variants.
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Has reproduction · 69
Meta-analysis of six dairy cattle breeds reveals biologically relevant candidate genes for mastitis resistance.
PMID 39009986 · PMC11247842 · Genetics, selection, evolution : GSE · 2024 · 6 claims · 8 setups
Meta-analysis of GWAS across multiple breeds for CM and SCS identified 58 lead markers associated with mastitis incidence, including 16 loci not overlapping previously identified QTL in AnimalQTLdb.
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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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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.
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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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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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Human genetics branches out in Barcelona.
PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups
A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect
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Has reproduction
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups
Genome-wide association of six CMR-derived aortic traits in up to 32,590 UK Biobank participants identifies 102 loci (including 27 novel associations) for aortic distensibility and area.
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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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Has reproduction
Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.
PMID 34411106 · PMC8375984 · PLoS genetics · 2021 · 8 claims · 3 setups
Genome scans of multivariate 3D facial shape phenotypes in Tanzanian children revealed significant associations at 20 loci (p < 2.5 × 10^-8).
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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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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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Has reproduction
Genomic prediction based on selective linkage disequilibrium pruning of low-coverage whole-genome sequence variants in a pure Duroc population.
PMID 37853325 · PMC10583454 · Genetics, selection, evolution : GSE · 2023 · 8 claims · 6 setups
Selective linkage disequilibrium pruning (SLDP) refines whole-genome SNP sets using GWAS prior information to improve genomic prediction accuracy.
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Has reproduction · 79
Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.
PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 7 claims · 8 setups
Meta-analysis confirms a positive bidirectional association between DED and DEP (DED patients have increased DEP prevalence and vice versa).