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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Has reproduction · 100
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
PMID 34561431 · PMC8463674 · Nature communications · 2021 · 8 claims · 7 setups
revTWMR, a reverse transcriptome-wide Mendelian Randomization approach integrating GWAS and whole-blood trans-eQTL summary statistics, is proposed to estimate the causal effect of a phenotype on gene expression.
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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
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
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Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.
PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups
In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.
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Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
PMID 18552984 · PMC2426732 · Molecular vision · 2008 · 8 claims · 4 setups
Coding/flanking regions of RHO, PRPF31, and IMPDH1, plus exons 4F/4G/4H of RP1, were PCR-amplified and directly sequenced in 48 isolated and 53 adRP Indian patients and 75 controls
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High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.
PMID 16168118 · PMC1242140 · Breast cancer research : BCR · 2005 · 8 claims · 4 setups
BRCA1 c.5266dupC (5382insC) is the dominant recurrent mutation driving hereditary breast/ovarian cancer in this Czech population
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From Pasteur to genomics: progress and challenges in infectious diseases.
PMID 15516917 · PMC7096024 · Nature medicine · 2004 · 8 claims · 8 setups
Genomic sequencing has revealed the blueprint of most pathogens, enabling new diagnostics, therapeutics and vaccines including for previously uncultivable agents.
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Validation of analytic methods for biomarkers used in drug development.
PMID 18829475 · PMC2744124 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups
Analytical method validation (assessing assay performance/reproducibility) is a distinct process from clinical qualification (linking a biomarker to biological processes and clinical endpoints), though the two are intertwined.
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High-resolution, high-throughput HLA genotyping by next-generation sequencing.
PMID 19845894 · PMC4205125 · Tissue antigens · 2009 · 7 claims · 5 setups
Clonal 454 sequencing reads (>250 nt) are long enough to span HLA exons and set phase of linked polymorphisms, resolving ambiguities inherent to Sanger-based heterozygote sequencing.
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Systems biology in human health and disease.
PMID 17893698 · PMC2013921 · Molecular systems biology · 2007 · 8 claims · 5 setups
High-throughput quantitative proteomics of signaling networks (e.g., HER2 overexpression) can be correlated with biological responses like proliferation and migration to better understand pathways deregulated in cancer.
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Has reproduction · 64
Integrated multi-omics analysis combined with clinical validation reveals that HLA-DRB5 and ODAPH are causal risk genes for keratoconus.
PMID 41803193 · PMC13179358 · Scientific reports · 2026 · 7 claims · 8 setups
HLA-DRB5 and ODAPH are causal risk genes for keratoconus, supported by SMR and Bayesian colocalization (HLA-DRB5 PP4=0.844, SMR p=0.001, OR=1.768; ODAPH PP4=1.0, SMR p=0.013, OR=202.851).
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Has reproduction · 73
RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.
PMID 39820365 · PMC11739599 · Nature communications · 2025 · 8 claims · 8 setups
RSK1 is a conserved, exploitable therapeutic dependency across MPN and secondary AML