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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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.
PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups
JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.
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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups
Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).
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High-throughput sequencing provides insights into genome variation and evolution in Salmonella Typhi.
PMID 18660809 · PMC2652037 · Nature genetics · 2008 · 7 claims · 8 setups
Evolution in the Typhi population is characterized by ongoing loss of gene function (pseudogene accumulation) rather than gain of function or diversifying selection.
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Genotypic analysis of two hypervariable human cytomegalovirus genes.
PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups
UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.
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Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.
PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups
B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence
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Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups
The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits
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Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.
PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups
emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection
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Multilocus sequence typing supports the hypothesis that Ochrobactrum anthropi displays a human-associated subpopulation.
PMID 20021660 · PMC2810298 · BMC microbiology · 2009 · 8 claims · 6 setups
A novel Multi-Locus Sequence Typing (MLST) scheme for O. anthropi was developed for the first time, based on 7 genes (3490 nucleotides) evolving mostly by neutral mutations
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Genomic diversity of oseltamivir-resistant influenza virus A (H1N1), Luxembourg, 2007-08.
PMID 19788831 · PMC2819849 · Emerging infectious diseases · 2009 · 8 claims · 5 setups
NA gene sequences of oseltamivir-resistant viruses (ORVs) form a distinct phylogenetic cluster separate from oseltamivir-sensitive viruses (OSVs)
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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups
Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings
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MLST clustering of Campylobacter jejuni isolates from patients with gastroenteritis, reactive arthritis and Guillain-Barré syndrome.
PMID 19702866 · PMC3985121 · Journal of applied microbiology · 2010 · 8 claims · 4 setups
Danish C. jejuni isolates from gastroenteritis, RA and GBS patients are highly genetically diverse, comprising 51 STs within 18 clonal complexes among 122 isolates.
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rMAP 2.0: a modular, reproducible, and scalable WDL-Cromwell-Docker workflow for genomic analysis of ESKAPEE pathogens.
PMID 41782684 · PMC12955837 · Bioinformatics advances · 2026 · 8 claims · 8 setups
rMAP 2.0 standardizes end-to-end bacterial WGS analysis (QC, trimming, assembly, annotation, AMR/virulence/mobile-element profiling, sequence typing, pangenome inference, phylogenetics) via containerized WDL/Cromwell execution
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AMR-GNN: a multi-representation graph neural network framework to enable genomic antimicrobial resistance prediction.
PMID 41792137 · PMC13087051 · Nature communications · 2026 · 7 claims · 8 setups
AMR-GNN, a graph neural network integrating multiple genomic representations (unitigs, SNPs, FCGR) via low-rank multimodal fusion, improves AMR phenotype prediction in P. aeruginosa compared to single-representation baseline models.
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Rapid identification of microbial pathogens and antimicrobial resistance from bloodstream infections using long-read sequencing.
PMID 42274466 · PMC13256323 · Microbial genomics · 2026 · 8 claims · 8 setups
A novel ONT long-read sequencing laboratory and bioinformatic workflow rapidly identifies bacterial and fungal organisms and AMR determinants from positive blood cultures
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PRDM1+ Malignant Cells Mediate an Immunosuppressive Landscape and Resistance to Neoadjuvant Chemoradiotherapy and Immunotherapy in Esophageal Squamous Cell Carcinoma.
PMID 41556358 · PMC13042517 · Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026 · 8 claims · 8 setups
A PRDM1+ malignant epithelial cell subcluster (Epi_C4) is enriched in NMPR patients and is associated with nICRT treatment resistance
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Intra-Tissue Bacteriome and Cellular Profiles in Periodontal Granulation Tissue From Osseous Defects and Extraction Sockets.
PMID 41732956 · PMC13086548 · Journal of clinical periodontology · 2026 · 7 claims · 6 setups
Osseous defect granulation tissue (GT) and inflamed gingival tissue (PT) exhibit periodontal health-associated, commensal-enriched bacteriome profiles, while root (RT) and socket (ST) granulation tissues show periodontopathogen enrichment and commensal depletion
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IFN signaling is associated with radiotherapy response in malignant peripheral nerve sheath tumors.
PMID 41766654 · PMC12948414 · The Journal of clinical investigation · 2026 · 8 claims · 8 setups
MPNST cells are more radioresistant than benign plexiform neurofibroma (pNF) cells in vitro
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Spatial and temporal description of antimalarial drug resistance markers in Ghana using targeted amplicon deep sequencing.
PMID 42118117 · PMC13231922 · Antimicrobial agents and chemotherapy · 2026 · 7 claims · 1 setups
Zonal differences in pfmdr1 N86-F184-S1034-N1042-D1246 (NFSND) haplotype trends are likely due to lower amodiaquine drug pressure in the Coastal zone compared to Forest and Savannah.
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Failure to detect mutations in the retinoblastoma protein-binding domain of the transcription factor E2F-1 in human cancers.
PMID 9045954 · PMC5921028 · Japanese journal of cancer research : Gann · 1996 · 4 claims · 6 setups
E2F-1 function is regulated by the RB protein through E2F-1's RB-binding domain, positioning E2F-1 downstream of RB