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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Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.
PMID 7577465 · PMC2033926 · British journal of cancer · 1995 · 7 claims · 4 setups
Allelic imbalance/LOH occurs most frequently on chromosome arms 3p, 9p, 17p and 18q (>45% LOH) in SCCHN
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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups
Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.
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Tuberculosis vaccine strain Mycobacterium bovis BCG Russia is a natural recA mutant.
PMID 18637199 · PMC2483709 · BMC microbiology · 2008 · 8 claims · 5 setups
A RecA- phenotype increases genetic stability and may help restrict ongoing genome evolution of BCG substrains while maintaining protective efficacy
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Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.
PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups
Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938
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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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Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.
PMID 7852189 · PMC5919385 · Japanese journal of cancer research : Gann · 1994 · 7 claims · 4 setups
p53 gene mutations occur more frequently in serous adenocarcinomas than in other common epithelial ovarian tumors combined
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Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.
PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups
A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.
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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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Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.
PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups
Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma
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Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.
PMID 19116668 · PMC2605564 · PloS one · 2008 · 7 claims · 6 setups
ASE is more robust than total gene expression approaches to environmental variation and trans-acting genetic factors, giving a cleaner representation of cis-acting effects.
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SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry.
PMID 19036792 · PMC2686442 · Nucleic acids research · 2009 · 8 claims · 7 setups
SysPIMP is a web-based platform integrating disease mutation databases with X!Tandem and BLAST to identify disease-related mutated proteins from MS results
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Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.
PMID 18567820 · PMC2518507 · Diabetes · 2008 · 8 claims · 5 setups
CDC123/CAMK1D rs12779790 risk allele (homozygous) is associated with decreased insulinogenic index, corrected insulin response (CIR), and AUC-insulin/AUC-glucose ratio, indicating impaired insulin release
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Proximal 6q, a region showing allele loss in primary breast cancer.
PMID 7841042 · PMC2033574 · British journal of cancer · 1995 · 8 claims · 1 setups
A proximal region of 6q (6q13 to 6q16.3-q21) shows a markedly elevated frequency of allelic imbalance (mean 35.3%) across seven microsatellite markers, higher than background AI levels.
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Statistical framework for calling allelic imbalance in high-throughput sequencing data.
PMID 39966391 · PMC11836314 · Nature communications · 2025 · 8 claims · 6 setups
MIXALIME is a versatile computational framework for calling allele-specific variants (ASVs) from diverse high-throughput omics data
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Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.
PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups
GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region
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The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.
PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups
The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.
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Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.
PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups
A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk
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Analysis of variants in DNA damage signalling genes in bladder cancer.
PMID 18638378 · PMC2488326 · BMC medical genetics · 2008 · 7 claims · 5 setups
SNPs in DSB signalling genes may modulate predisposition to bladder cancer and influence effects of environmental exposures
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The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples.
PMID 18460190 · PMC2391158 · BMC medical genetics · 2008 · 8 claims · 4 setups
A novel candidate-gene selection strategy combining unbiased schizophrenia expression/linkage data with the estrogen hypothesis as a biological filter identifies glycolysis as a candidate pathway network for schizophrenia
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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination