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).

• Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.

  PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups

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  SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans

  african snp sequencing admixture

• Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

  PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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  TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

  genomic healthy irish case mutation direct taqman

• Public health genomics approach to type 2 diabetes.

  PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups

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  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).

  population-based white genetic genotyping systematic

• The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

  PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups

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  HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH

  peripheral genomic nuclear mel cation reverse-phase denaturing

• Designing candidate gene and genome-wide case-control association studies.

  PMID 17947991 · PMC4180089 · Nature protocols · 2007 · 8 claims · 4 setups

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  Common complex diseases are influenced by multiple genetic and environmental factors that individually are neither necessary nor sufficient to cause disease

  population monozygotic international genome-wide candidate twin

• Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

  PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

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  Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

  european african individuals nondiabetic snp variant direct

• Detecting purely epistatic multi-locus interactions by an omnibus permutation test on ensembles of two-locus analyses.

  PMID 19761607 · PMC2759961 · BMC bioinformatics · 2009 · 8 claims · 5 setups

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  2LOmb performs an omnibus permutation test on ensembles of two-locus analyses via a four-step algorithm (two-locus analysis, permutation test, global p-value determination, progressive ensemble search)

  simulated same snp type two-locus 2lomb benchmark

• Estimating and Correcting for Off-Target Cellular Contamination in Brain Cell Type Specific RNA-Seq Data.

  PMID 33746712 · PMC7966716 · Frontiers in molecular neuroscience · 2021 · 6 claims · 7 setups

  Has reproduction · 50

  A computational method using high-quality scRNA-seq reference data can estimate per-sample, per-cell-type off-target contamination coefficients in sctRNA-seq datasets.

  brain cortex allen lcm-seq lcm-seq scrna-seq marker

• Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

  PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

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  None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

  genomic case-control nramp1 type sanger snp microsatellite

• Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

  PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups

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  A Bayesian-inspired penalised maximum likelihood stochastic search method can simultaneously analyse all SNPs (up to 500K) from a GWA study in a few hours on a desktop workstation

  fregene-simulated 80k-snp 480k 192k simulated null whole-genome

• Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

  PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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  SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

  blood family unrelated subjects snp family-based linkage

• High-density single nucleotide polymorphism genome-wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: discordant sibpair approach.

  PMID 18559660 · PMC2518505 · Diabetes · 2008 · 8 claims · 3 setups

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  Primary linkage finding for diabetic nephropathy is on chromosome 19q

  sibpairs genotype patients genome-wide statistical urinary

• Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

  PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups

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  15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)

  orthologues repair case-control phosphorylation cross-species database

• 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

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  Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

  genomic postmortem nimhgi esr1 targeted case-control family-based

• Considerations regarding the genetics of obesity.

  PMID 19037210 · PMC2682366 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups

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  Genetic factors account for 40-70% of the variance in human adiposity

  monozygotic subjects european children twin genome-wide association

• Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

  PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

  genomic pcr patients dhplc cloning pcr-rflp

• Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type.

  PMID 19718013 · PMC4120323 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009 · 8 claims · 2 setups

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  Immunohistochemical KIT expression is significantly associated with KIT mutation status in acral lentiginous/mucosal melanoma

  melanoma immunohistochemistry pcr

• D2H2: diabetes data and hypothesis hub.

  PMID 38107655 · PMC10723036 · Bioinformatics advances · 2023 · 6 claims · 5 setups

  Has reproduction

  D2H2 is a web portal hosting hundreds of curated, uniformly reprocessed diabetes-relevant transcriptomics datasets from GEO with per-study visualization, differential expression, and single-gene queries.

  obese type pubmed bulk single-cell single-gene

• Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

  PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups

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  Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations

  formalin-fixed ffpe paired study direct pcr restriction

• Analysis of variants in DNA damage signalling genes in bladder cancer.

  PMID 18638378 · PMC2488326 · BMC medical genetics · 2008 · 7 claims · 5 setups

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  SNPs in DSB signalling genes may modulate predisposition to bladder cancer and influence effects of environmental exposures

  peripheral case-control unphased extracted snp confirmatory logistic