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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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Has reproduction · 64
VIGET: A web portal for study of vaccine-induced host responses based on Reactome pathways and ImmPort data.
PMID 37180100 · PMC10172660 · Frontiers in immunology · 2023 · 7 claims · 7 setups
VIGET is a web portal that lets users select vaccines/ImmPort studies, run differential gene expression analysis, and perform Reactome-based pathway enrichment and functional interaction network construction
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.
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Emerging strategies and applications of pharmacogenomics.
PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups
Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.
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Identification of the proliferation/differentiation switch in the cellular network of multicellular organisms.
PMID 17166053 · PMC1664705 · PLoS computational biology · 2006 · 8 claims · 8 setups
Integrating interactome and transcriptome data reveals a pair of transcriptionally anticorrelated network modules (P and D) each comprising hundreds of genes, present across individuals and species.
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Application of functional genomics to primate endometrium: insights into biological processes.
PMID 17118168 · PMC1775064 · Reproductive biology and endocrinology : RB&E · 2006 · 8 claims · 7 setups
Gene expression profiles differ distinctly across proliferative, early-, mid-, and late-secretory phases of the human menstrual cycle, reflecting sequential estradiol and progesterone action.
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Computation of haplotypes on SNPs subsets: advantage of the "global method".
PMID 17067372 · PMC1636337 · BMC genetics · 2006 · 6 claims · 4 setups
The global method for subhaplotyping always yields a lower error rate than the direct method across datasets and SNP subset sizes
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Transcriptome and proteome expressions involved in insulin resistance in muscle and activated T-lymphocytes of patients with type 2 diabetes.
PMID 18267303 · PMC5054231 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups
Gene expression of INSR, VDR, IDE, Akt, IRS-1, IRS-2, GLUT4, and glycolytic pathway enzymes is decreased at least 50% in T2DM muscle and activated T-cells versus non-diabetic controls
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Predictive genomics of cardioembolic stroke.
PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups
A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values
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Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.
PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups
HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.
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Gene expression study on peripheral blood identifies progranulin mutations.
PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups
PGRN is highly expressed in peripheral blood (97th percentile of all array genes)
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Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups
Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R
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Nutritional genomics, polyphenols, diets, and their impact on dietetics.
PMID 18954579 · PMC2692306 · Journal of the American Dietetic Association · 2008 · 8 claims · 8 setups
Nutrient-gene interactions, exemplified by the MTHFR C677T polymorphism, modulate individual metabolic responses (e.g., homocysteine metabolism) and can be offset by adjusting nutrient intake such as folate
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Variations in the transcriptome of Alzheimer's disease reveal molecular networks involved in cardiovascular diseases.
PMID 18842138 · PMC2760875 · Genome biology · 2008 · 8 claims · 6 setups
AD-related genes (APOE, A2M, PON2, MAP4) and CVD-associated genes (COMT, CBS, WNK1) congregate in a single co-expression module, linking AD and CVD at the transcriptional level
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Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.
PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups
151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations
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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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Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.
PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups
EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women
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Genomic studies of mood disorders -- the brain as a muscle?
PMID 15833130 · PMC1088952 · Genome biology · 2005 · 7 claims · 5 setups
FGF family members and receptors (notably FGF1, FGF2, FGFR2, FGFR3) are down-regulated in postmortem prefrontal cortex of subjects with major depressive disorder but not in bipolar or control subjects.
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Better smelling through genetics: mammalian odor perception.
PMID 18938244 · PMC2590501 · Current opinion in neurobiology · 2008 · 8 claims · 8 setups
Odorant receptor (OR) gene repertoire size and pseudogene fraction vary dramatically across mammalian species