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).

• An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.

  PMID 19925645 · PMC2791104 · BMC bioinformatics · 2009 · 7 claims · 3 setups

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  The loop design compares three patients pairwise across three hybridizations instead of each patient against a normal reference, using all arrays for informative test samples and avoiding ambiguity from benign CNVs in a reference sample.

  genomic e.g array karyotyping fish

• Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

  PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

  peripheral patient-parent genomic crebbp karyotyping bac microsatellite

• Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

  PMID 18925961 · PMC2588460 · BMC cancer · 2008 · 8 claims · 4 setups

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  aCGH profiling of CMML samples reveals three profile types: normal-like (two-thirds of cases), large chromosomal abnormalities, and focal single/few-gene gains or losses

  bone array-cgh sanger nested

• Single-Cell Transcriptomic Landscape of Right-Sided Colon Cancer Reveals Cellular and Molecular Features of Metastatic Potential.

  PMID 41898210 · PMC13024220 · Biomedicines · 2026 · 8 claims · 8 setups

  Has reproduction · 71

  Liver metastatic potential in RCC is marked by stem-like tumor states, metabolic plasticity, and microenvironmental remodeling.

  right-sided single integrated malignant single-cell copy dimensionality

• The promise of biomarkers in colorectal cancer detection.

  PMID 15322316 · PMC3839323 · Disease markers · 2004 · 8 claims · 8 setups

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  A panel/combination of biomarkers is likely to provide better predictive value for early CRC detection than any single biomarker.

  stool specimens serum multi-target afb1-n7-guanine mutation

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• Divide and conquer: progress in the molecular stratification of cancer.

  PMID 19718393 · PMC2730607 · Yonsei medical journal · 2009 · 8 claims · 8 setups

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  Cancers exhibit significant clinical, histopathologic, and molecular heterogeneity between individual patients

  breast nsclc colon early-stage immunohistochemistry gene comparative

• A statistical approach for array CGH data analysis.

  PMID 15705208 · PMC549559 · BMC bioinformatics · 2005 · 8 claims · 4 setups

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  Existing model-selection criteria (AIC, BIC, and prior ad hoc penalties) are not well adapted to estimating the number of segments in array CGH data

  fibroblast simulated bt474 dissected array numerical

• Colorectal cancer genomics: evidence for multiple genotypes which influence survival.

  PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups

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  Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution

  dukes colorectal comparative kaplan-meier

• Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.

  PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups

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  p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)

  bone presentation b-cells direct allele-specific igh

• Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

  PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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  A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

  genomic peripheral metaphase dhplc sequencing rt-pcr

• Genomics: applications in mechanism elucidation.

  PMID 19166886 · PMC2698023 · Advanced drug delivery reviews · 2009 · 8 claims · 8 setups

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  Genomic tools require no a priori knowledge of a compound's mode of action and can reveal biological pathways (metabolism, distribution, off-target effects) in addition to the precise mechanism of action.

  extract panel saccharomyces inbred affinity cytotoxicity genome-wide

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• Recurrent and multiple bladder tumors show conserved expression profiles.

  PMID 18590527 · PMC2483988 · BMC cancer · 2008 · 8 claims · 7 setups

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  Recurrent and multiple bladder tumors from the same patient display remarkably similar gene expression profiles despite genomic differences.

  urothelial genomic tumor processed gene comparative loh

• Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

  PMID 18334959 · PMC2268850 · Molecular vision · 2008 · 7 claims · 5 setups

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  A homozygous c.955G>A mutation at the last base of exon 6 of LCA5 disrupts the normal splice donor site.

  genomic lca5 lymphocyte affected snp sanger splice

• TSUNAMI: Translational Bioinformatics Tool Suite for Network Analysis and Mining.

  PMID 33705981 · PMC9403021 · Genomics, proteomics & bioinformatics · 2021 · 8 claims · 6 setups

  Has reproduction · 79

  TSUNAMI is a freely accessible web-based tool suite that mines gene co-expression network (GCN) modules from public (GEO, TCGA) or user-uploaded numerical omics data and performs downstream gene set enrichment analysis.

  gse17537 36th first gene circos survival

• The future is genome-wide.

  PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups

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  Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level

  schizophrenia myocardial individuals infectious genetic candidate gene

• OncoDB.HCC: an integrated oncogenomic database of hepatocellular carcinoma revealed aberrant cancer target genes and loci.

  PMID 17098932 · PMC1669730 · Nucleic acids research · 2007 · 7 claims · 6 setups

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  OncoDB.HCC integrates human HCC LOH, CGH, microarray/proteomic expression, PubMed-reported gene data, and rodent HCC QTLs into a single physical-map-based database

  paired hcc rodent semi-quantitative microarray comparative

• Oncogenic mutations in GNAQ occur early in uveal melanoma.

  PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups

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  Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM

  uveal peripheral normal well-characterized pcr sequencing array-based

• Recurrent DNA copy number changes in 1q, 4q, 6q, 9p, 13q, 14q and 22q detected by comparative genomic hybridization in malignant mesothelioma.

  PMID 9052404 · PMC2063309 · British journal of cancer · 1997 · 7 claims · 2 setups

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  This is the first genome-wide screening for DNA sequence gains and losses using CGH in malignant pleural mesothelioma tumours.

  pleural cgh comparative statistical