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).

• A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

  PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups

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  The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)

  liver genomic peripheral liver g6pase glucose-loading

• Cell Specific eQTL Analysis without Sorting Cells.

  PMID 25955312 · PMC4425538 · PLoS genetics · 2015 · 7 claims · 4 setups

  Has reproduction · 90

  A genotype x predicted-cell-count interaction (GxE) meta-analysis across whole blood datasets can detect neutrophil-specific cis-eQTLs without cell sorting

  blood neutrophils cis-eqtl cell-count rna-seq

• Context-specific regulatory genetic variation in MTOR dampens neutrophil-T cell crosstalk in pneumonia-associated sepsis.

  PMID 41741465 · PMC13057173 · Nature communications · 2026 · 8 claims · 7 setups

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  The MTOR eQTL variant rs4845987 has context-specific, opposite effects on MTOR expression: decreasing it in activated T cells and increasing it in neutrophils.

  blood bulk eqtl sepsis bulk cell-type colocalisation

• Genomic transcriptional profiling identifies a candidate blood biomarker signature for the diagnosis of septicemic melioidosis.

  PMID 19903332 · PMC3091321 · Genome biology · 2009 · 6 claims · 5 setups

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  A candidate 37-transcript diagnostic signature distinguishes septicemic melioidosis from sepsis caused by other organisms with 100% accuracy in the training set and 78%/80% accuracy in two independent validation sets

  blood whole-genome unsupervised class

• Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.

  PMID 41637188 · PMC12932927 · Cell reports · 2026 · 8 claims · 8 setups

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  Combined MPRA enhancer assays, RNA-seq (DE/ATU) analysis, and CRISPR-Cas9 engineering to dissect the function of 94 rare non-coding variants (RNVs) associated with blood traits

  k-562 chrf-288-11 hl-60 thp-1 massively bulk crispr-cas9

• DNA methylation profiles at hospital admission are associated with subsequent severe COVID-19 outcomes.

  PMID 42021404 · PMC13251264 · Clinical epigenetics · 2026 · 7 claims · 5 setups

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  DNA methylation profiles at hospital admission differ among disease trajectory groups (TGs) and are associated with subsequent disease progression.

  pbmcs blood immune end-stage targeted rna-seq mass