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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Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.
PMID 19655247 · PMC2903621 · Digestive diseases and sciences · 2009 · 8 claims · 8 setups
Candidate gene association studies with IBS symptom phenotype (e.g., SLC6A4, GNB3, IL-10) have generally produced inconsistent, unreplicated results.
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The genetics of regulatory variation in the human genome.
PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups
Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.
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Genetics of osteoarticular disorders, Florence, Italy, 22-23 February 2002.
PMID 12223106 · PMC128940 · Arthritis research · 2002 · 8 claims · 8 setups
OP and OA are common, polygenic, multifactorial quantitative disorders influenced by both low-penetrance genetic variants and environmental factors
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Genomics and biology come together to fight HIV.
PMID 18366259 · PMC2270331 · PLoS biology · 2008 · 8 claims · 6 setups
Genome-wide association studies have identified ~100 genetic polymorphisms robustly (genome-wide significant) linked to common human traits/diseases, but the biological mechanisms behind most remain unknown.
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Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
PMID 19750224 · PMC2735778 · PLoS pathogens · 2009 · 7 claims · 5 setups
The IRGM −261TT genotype is negatively associated with (protective against) pulmonary TB caused by M. tuberculosis
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Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.
PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells
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Has reproduction · 50
ZAP targets aberrant mRNA transcripts encoding proteins with defective signal peptides for degradation.
PMID 41820617 · PMC13084044 · The EMBO journal · 2026 · 8 claims · 7 setups
ZAP (ZC3HAV1/PARP13) is a key component of the RAPP quality control pathway
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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.
PMID 18635889 · PMC2556453 · American journal of respiratory and critical care medicine · 2008 · 7 claims · 5 setups
The TLR1 −7202A/G (rs5743551) G allele is associated with elevated TLR1-mediated cytokine production ex vivo
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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Has reproduction · 54
A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans.
PMID 40629379 · PMC12239316 · BMC biology · 2025 · 8 claims · 7 setups
A 14-bp deletion in the KIT gene promoter region is associated with the all-white phenotype in yaks, identified via GWAS
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
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With the finished human genome in hand, what next?
PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups
Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.
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Genomics--from Neanderthals to high-throughput sequencing.
PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups
Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.