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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Technical challenges in using human induced pluripotent stem cells to model disease.
PMID 19951687 · PMC2921621 · Cell stem cell · 2009 · 8 claims · 8 setups
hiPSCs generated from patient somatic cells (skin, blood) can be differentiated into disease-relevant cell types to model disease pathogenesis in vitro
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Genome-scale approaches to the epigenetics of common human disease.
PMID 19844740 · PMC3107986 · Virchows Archiv : an international journal of pathology · 2010 · 7 claims · 8 setups
DNA methylation is a stable, mitotically heritable epigenetic mark faithfully propagated by DNMT1 acting on hemimethylated DNA during replication
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups
A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test
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What have we learned from the congenital myasthenic syndromes.
PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups
CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction
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Exploration of effective biomarkers for venous thrombosis embolism in Behçet's disease based on comprehensive bioinformatics analysis.
PMID 38987624 · PMC11236978 · Scientific reports · 2024 · 6 claims · 8 setups
Four hub genes (E2F1, GATA3, HDAC5, MSH2) serve as diagnostic biomarkers for VTE in BD with high accuracy (AUC 0.816)
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Single-cell immunophenotyping identifies CD8+GZMK+IFNG+ T cells as a key immune population in cutaneous Lyme disease.
PMID 41729083 · PMC12956012 · JCI insight · 2026 · 8 claims · 7 setups
A clonally expanded CD8+GZMK+IFNG+ T cell population (subdivided into IFNGhi and IFNGint groups) is enriched in the EM lesion and shows an inflammatory, tissue-resident phenotype (GZMBlo/PRF1-) resembling tissue-enriched GZMK+ TteK cells
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DNA methylation profiles at hospital admission are associated with subsequent severe COVID-19 outcomes.
PMID 42021404 · PMC13251264 · Clinical epigenetics · 2026 · 7 claims · 5 setups
DNA methylation profiles at hospital admission differ among disease trajectory groups (TGs) and are associated with subsequent disease progression.
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Single-cell and spatial profiling highlights TB-induced myofibroblasts as drivers of lung pathology.
PMID 41489684 · PMC12767585 · The Journal of experimental medicine · 2026 · 8 claims · 8 setups
MMP1+CXCL5+ fibroblasts and SPP1+ macrophages are linked to TB disease and TB lung granuloma and reveal targetable cellular cross talk underlying TB immunopathology
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Chamber-specific chromatin architecture guides functional interpretation of disease-associated Cis-regulatory elements in human cardiomyocytes.
PMID 41526351 · PMC12796357 · Nature communications · 2026 · 8 claims · 8 setups
Cardiomyocyte (CM)-specific Hi-C data detect substantially more and stronger promoter-interacting domains (PIDs) for CM marker genes than bulk cardiac tissue Hi-C data
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Cellular insights into transposable elements in Alzheimer's disease.
PMID 41573740 · PMC12819740 · Frontiers in molecular biosciences · 2025 · 8 claims · 5 setups
508 TE loci are differentially expressed in AD brain, with the large majority (84.3%) upregulated, indicating widespread TE activation
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Spatial transcriptomics reveals altered communities and drivers of aberrant epithelia and pro-fibrotic fibroblasts in interstitial lung diseases.
PMID 41576947 · PMC12985369 · Cell genomics · 2026 · 7 claims · 7 setups
snRNA-seq census of 227,680 nuclei across 48 cell types reveals altered cellular states and compositional rewiring of the distal lung in ILD
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Indigenous gut microbes modulate neural cell state and neurodegenerative disease susceptibility.
PMID 41638211 · PMC13091097 · Cell systems · 2026 · 8 claims · 7 setups
A complex, intact gut microbiome is necessary for the steady-state transcriptional landscape of all major brain-resident cell types, with myelinating oligodendrocytes and immune cells showing the largest microbiome-dependent transcriptional response.
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Blood-based epigenetic instability linked to human aging and disease.
PMID 41690920 · PMC13018287 · Nature communications · 2026 · 7 claims · 8 setups
31,744 unmethylated (and 6143 methylated) CpG loci in blood show highly consistent, stable methylation in young healthy individuals and are defined as Epigenetically Stable Loci (ESLs)
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Single-nucleus multiomic profiling of the aging mouse substantia nigra reveals conserved gene alterations linked to Parkinson's disease.
PMID 41781332 · PMC13138337 · Genome research · 2026 · 8 claims · 7 setups
Single-nucleus multiome (RNA+ATAC) sequencing of mouse substantia nigra across four age stages (2, 6, 12, 18 months) yields a 40,125-cell atlas spanning 27 cell subclasses
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Cell type-specific epigenetic regulatory circuitry of coronary artery disease loci.
PMID 41807385 · PMC12979833 · Nature communications · 2026 · 8 claims · 8 setups
Integration of CAD GWAS summary statistics with epigenetic data from 45 cell types identifies 1580 candidate CAD genes
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HIF3A-mediated aberrant activation of TXNIP promotes Alzheimer's disease progression.
PMID 41807716 · PMC13096512 · Scientific reports · 2026 · 8 claims · 8 setups
OS activity is significantly elevated in AD and shows pronounced heterogeneity across brain cell types
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Putting science over supposition in the arena of personalized genomics.
PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups
There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.
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Nursing advocacy in a postgenomic age.
PMID 19850180 · PMC2766592 · The Nursing clinics of North America · 2009 · 8 claims · 3 setups
Nurses need genetics/genomics competency (knowledge, reasoning, and action) to be effective patient advocates in the post-genomic era
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Social and ethical implications of genomics, race, ethnicity, and health inequities.
PMID 19000599 · PMC2892396 · Seminars in oncology nursing · 2008 · 8 claims · 5 setups
Race and ethnicity are increasingly viewed as genetic surrogates for predicting disease risk and treatment response, though directly assessing genomic and environmental factors is more accurate.