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).

• Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

  PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups

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  50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.

  genomic α-gal cos-7 transcripts pcr southern microsatellite

• Isolated populations and complex disease gene identification.

  PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups

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  Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.

  genetically icelandic finnish hutterites linkage genome-wide

• PolySearch: a web-based text mining system for extracting relationships between human diseases, genes, mutations, drugs and metabolites.

  PMID 18487273 · PMC2447794 · Nucleic acids research · 2008 · 8 claims · 7 setups

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  PolySearch supports more than 50 different classes of queries against nearly a dozen types of text, abstract, or bioinformatic databases

  manually biomedical text feature real-life

• POCUS: mining genomic sequence annotation to predict disease genes.

  PMID 14611661 · PMC329128 · Genome biology · 2003 · 8 claims · 6 setups

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  Genes predisposing to the same disease tend to share functional annotation IDs (GO/InterPro) more than expected by chance

  omim genome disease comparative pocus expression-id

• RAId_DbS: mass-spectrometry based peptide identification web server with knowledge integration.

  PMID 18954448 · PMC2605478 · BMC genomics · 2008 · 7 claims · 4 setups

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  Constructed enhanced protein databases integrating annotated SAPs, PTMs, and disease associations for 17 organisms.

  consensus sap query all-against-all blast cross-database

• The identification of a Distinct Astrocyte Subtype that Diminishes in Alzheimer's Disease.

  PMID 38502590 · PMC11567244 · Aging and disease · 2024 · 7 claims · 6 setups

  Has reproduction · 57

  A distinct astrocyte subpopulation marked by low GFAP, plus AQP4 and CD63 expression, exists in normal brain but is diminished in AD samples in both human and mouse.

  prefrontal snrna-seq frontal brain single-nuclei gene cell-cell

• Identification of "pathologs" (disease-related genes) from the RIKEN mouse cDNA dataset using human curation plus FACTS, a new biological information extraction system.

  PMID 15115540 · PMC420239 · BMC genomics · 2004 · 6 claims · 3 setups

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  Bioinformatic sequence comparison of 60,770 RIKEN FANTOM2 mouse cDNA clones identified 2,578 sequences with 70-85% identity to known human disease genes/proteins

  riken medline sequence manual semi-automated

• Diagnostic proteomics: serum proteomic patterns for the detection of early stage cancers.

  PMID 15258335 · PMC3851082 · Disease markers · 2003 · 8 claims · 8 setups

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  Proteomic pattern analysis of serum mass spectra, without identifying the underlying proteins, can distinguish cancer patients from healthy controls with high sensitivity and specificity.

  serum frozen ig-depleted clinical seldi-tof maldi lc-ms

• Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.

  PMID 18989397 · PMC2565504 · PLoS computational biology · 2008 · 7 claims · 5 setups

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  The locations of sequence variants are correlated between paralogous human proteins more than expected by chance.

  dbsnp best-hit omicia hgmd genome-wide correlation disease

• Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

  PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  LQTS-associated mutations were identified in 8 of 112 families studied

  large lqts family mutation linkage direct single-strand

• Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

  PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups

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  Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.

  hgmd refseq aligned svm svm reciprocal inter-species

• Short tandem repeats in human exons: a target for disease mutations.

  PMID 18789129 · PMC2543027 · BMC genomics · 2008 · 8 claims · 6 setups

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  STRs are present in exons of 92% of known human genes, unlike longer tandem repeats which are rare in exons

  reference genome genes genome-wide indel disease

• Shotgun proteomics and biomarker discovery.

  PMID 12364816 · PMC3851423 · Disease markers · 2002 · 8 claims · 7 setups

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  Shotgun (LC/LC-MS/MS, e.g. MudPIT) proteomic approaches show advantages over gel-based techniques in speed, sensitivity, scope of analysis, and dynamic range.

  urine yeast cysteine-containing hemoglobin 2d-ge lc-ms imac

• Proteomics as a tool for biomarker discovery.

  PMID 18057524 · PMC3851415 · Disease markers · 2007 · 8 claims · 7 setups

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  A useful clinical biomarker must be easily attainable, have adequate sensitivity, have adequate specificity, and lead to patient benefit through intervention

  serum laser ovarian seldi-tof two-dimensional gene

• The process chain for peptidomic biomarker discovery.

  PMID 16410650 · PMC3850862 · Disease markers · 2006 · 8 claims · 3 setups

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  Peptidomics (comprehensive analysis of peptides and small proteins <20 kDa) fills a methodological gap left by standard proteomics, which mainly addresses proteins in the ~10-200 kDa range.

  general body patients 2d-gel peptidomics peptidomic

• Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.

  PMID 34107850 · PMC8806433 · Bioengineered · 2021 · 6 claims · 6 setups

  Has reproduction · 55

  TYR, TYRP1, DCT and LARP7 are biomarkers associated with vitiligo

  vitiligo merged robust gse90880 gene robust kegg

• Identification of the shared hub gene signatures and molecular mechanisms between HIV-1 and pulmonary arterial hypertension.

  PMID 38528047 · PMC10963360 · Scientific reports · 2024 · 7 claims · 7 setups

  Has reproduction · 71

  HIV-1 and PAH share 109 co-expressed genes primarily enriched in type I interferon (IFN) pathways.

  pbmc shared gene microarray kegg

• Heart disease, clinical proteomics and mass spectrometry.

  PMID 15502250 · PMC3839266 · Disease markers · 2004 · 8 claims · 4 setups

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  Proteins bound to serum albumin (the albuminome) will be altered in patients with heart failure compared to controls

  swine animal general affinity maldi-tof tandem

• Proteomic-based identification of haptoglobin-1 precursor as a novel circulating biomarker of ovarian cancer.

  PMID 15199385 · PMC2364749 · British journal of cancer · 2004 · 7 claims · 7 setups

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  Six serum protein spots (~40 kDa, pI 5.9–6.6) significantly overexpressed in grade 1, 2 and 3 ovarian cancer patients were identified by MALDI-TOFMS and n-ESIQ(q)TOFMS as isoforms of haptoglobin-1 precursor (HAP1)

  serum tryptic 2de-separated paraffin-embedded two-dimensional affi-gel maldi-tofms

• The use of proteomics in biomarker discovery in neurodegenerative diseases.

  PMID 15920295 · PMC3850612 · Disease markers · 2005 · 8 claims · 8 setups

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  A combination of low CSF-β-amyloid(1-42) with high CSF-tau and high CSF-phospho-tau is associated with an AD diagnosis

  csf serum two-dimensional seldi liquid-phase