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).

• Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

  PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups

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  CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

  unrelated genomic mtmr2 array quantitative sanger

• Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

  PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups

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  PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer

  colon gbm cancer dbtrg array pcr colony

• Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

  PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

  parental genomic anonymized peripheral microsatellite direct mutation

• High-resolution, high-throughput HLA genotyping by next-generation sequencing.

  PMID 19845894 · PMC4205125 · Tissue antigens · 2009 · 7 claims · 5 setups

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  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.

  cell-line mixtures blood genomic flx amplicon pcr

• The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

  PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups

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  Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2

  peripheral bladder current genotype pcr-rflp structured fagerström

• Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

  PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups

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  SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.

  blood-derived subjects mutation pure high-resolution

• Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

  PMID 19775295 · PMC2783282 · British journal of haematology · 2009 · 8 claims · 4 setups

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  ELANE mutations were detected in 90 of 162 SCN patients (55.6%), making it the most commonly mutated gene in SCN.

  peripheral whole-genome-amplified gfi1 sanger high-throughput sift

• Expanding CEP290 mutational spectrum in ciliopathies.

  PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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  A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

  peripheral genomic quantitative cdna pcr

• Assessing the genomic evidence for conserved transcribed pseudogenes under selection.

  PMID 19754956 · PMC2753554 · BMC genomics · 2009 · 8 claims · 8 setups

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  1750 transcribed pseudogene annotations (TPAs) were identified in the human genome, ~11.5% of all human pseudogene annotations.

  genome rhesus vega-annotated tpas transcript-to-genome same synteny

• Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network.

  PMID 19728866 · PMC2768980 · Genome biology · 2009 · 6 claims · 6 setups

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  Integrating 16 genomic features (32 sub-features) via a naïve Bayes classifier produces a genome-scale FLN of 21,657 human genes and 22,388,609 weighted links that outperforms any individual data source for inferring functional linkages.

  genome gene omim known naïve linkage disease-centric

• Ethnic differences and functional analysis of MET mutations in lung cancer.

  PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups

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  MET mutations identified in lung tumors are predominantly germline rather than somatic

  tumor established recombinant cos-7 pcr elisa-based apoptosis

• A comprehensive resource of genomic, epigenomic and transcriptomic sequencing data for the black truffle Tuber melanosporum.

  PMID 25392735 · PMC4228822 · GigaScience · 2014 · 8 claims · 8 setups

  Has reproduction · 61

  T. melanosporum shows a high rate of cytosine methylation (>44%) that selectively targets transposable elements rather than genes, with a strong preference for CpG sites.

  tuber ectomycorrhizal melanosporum rna-seq whole-genome sequencing guided

• Segmented filamentous bacteria are worldwide human gut commensals.

  PMID 41786702 · PMC13153320 · Nature communications · 2026 · 8 claims · 8 setups

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  Identification and morphological/genomic characterization of a novel human SFB species, Anisomitus miae (Human-SFB-ML), from Malian/Gambian/Kenyan fecal samples, displaying SFB-specific morphology including the attachment tip structure

  fecal sfb human-sfb-ml publicly pacbio maximum gram

• Transposable elements are driving rapid adaptation of Enterococcus faecium.

  PMID 42020750 · PMC13216065 · Nature · 2026 · 8 claims · 8 setups

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  E. faecium has the highest IS density among ESKAPEE pathogens, dominated by replicative ISL3 family elements

  eskapee faecium ncbi single-hospital large-scale chromosome core

• Integrative phenotypic and functional genomic characterization of virulence and antimicrobial resistance in Salmonella enterica isolates from reptiles.

  PMID 42245496 · PMC13230192 · Frontiers in microbiology · 2026 · 8 claims · 6 setups

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  Salmonella culture case positivity rate in reptiles submitted to BADDL (2018-2025) was 16.41%

  reptile salmonella selected wgs bacterial antibiotic whole-genome

• How bacterial communities expand functional repertoires.

  PMID 17238278 · PMC1750926 · PLoS biology · 2006 · 8 claims · 7 setups

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  The human microbiome contains roughly 100 times as many genes as does the human genome

  bacteroides distal interleukin-10-deficient macrophages transcriptional metagenomic microbiota

• Systems biology of gene regulation fulfills its promise.

  PMID 16719937 · PMC1779525 · Genome biology · 2006 · 8 claims · 8 setups

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  Suz12, a Polycomb Group complex component, has DNA targets identifiable by ChIP-chip and can silence large genomic regions in a cell-type-specific manner.

  unspecified embryonic five yeast chip-chip chip-pet computational

• Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

  PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups

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  Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation

  blood-derived hemangioblastoma single-strand direct sscp

• Genome structure in the vole bacillus, Mycobacterium microti, a member of the Mycobacterium tuberculosis complex with a low virulence for humans.

  PMID 15133113 · PMC2964484 · Microbiology (Reading, England) · 2004 · 8 claims · 3 setups

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  Compared to M. tuberculosis H37Rv, 13 distinct deleted regions were identified across 12 M. microti strains, including RD1–RD10 also missing in M. bovis BCG.

  microti microarray pcr spoligotyping

• Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

  PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

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  Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

  peripheral population-based same germline epidemiological genotype-phenotype