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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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
PMID 17142224 · PMC1669776 · Nucleic acids research · 2006 · 8 claims · 8 setups
Pure (GAA·TTC)44+ alleles at the FXN locus are unstable in human somatic cells in vivo, showing both expansions and contractions.
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Has reproduction · 89
miRge 2.0 for comprehensive analysis of microRNA sequencing data.
PMID 30153801 · PMC6112139 · BMC bioinformatics · 2018 · 8 claims · 6 setups
miRge 2.0 introduces a novel SVM-based miRNA detection method using both hairpin structure and isomiR composition, yielding higher specificity for miRNA identification
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Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.
PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups
Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.
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Proteomics and genomics: perspectives on drug and target discovery.
PMID 18302945 · PMC2386992 · Current opinion in chemical biology · 2008 · 8 claims · 8 setups
Protein kinases account for approximately 25% of research and development projects in biotechnology and pharma
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Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.
PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups
A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.
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The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups
The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers
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Mutation survey of known LCA genes and loci in the Saudi Arabian population.
PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups
Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations
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Has reproduction · 61
miEAA 2.0: integrating multi-species microRNA enrichment analysis and workflow management systems.
PMID 32374865 · PMC7319446 · Nucleic acids research · 2020 · 8 claims · 3 setups
miEAA 2.0 supports miRNA/precursor enrichment input from ten frequently investigated organisms, expanding beyond the human-only first release.
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Has reproduction · 80
Specific signature biomarkers highlight the potential mechanisms of circulating neutrophils in aneurysmal subarachnoid hemorrhage.
PMID 36438795 · PMC9685413 · Frontiers in pharmacology · 2022 · 7 claims · 8 setups
Six genes (CST7, HSP90AB1, PADI4, PLBD1, RAB32, SLAMF6) are signature diagnostic biomarkers for aSAH identified by LASSO and SVM-RFE.
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Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.
PMID 10952774 · PMC2363536 · British journal of cancer · 2000 · 8 claims · 5 setups
The estimated prevalence of BRCA1 mutations in the general Dutch breast cancer population is 2.1%
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Non-linear mapping for exploratory data analysis in functional genomics.
PMID 15661072 · PMC548129 · BMC bioinformatics · 2005 · 8 claims · 8 setups
A relaxation method for non-linear mapping adapts one pair of points per step rather than all points at once, and was originally shown by Chang and Lee to outperform Sammon's mapping in cluster detection effectiveness and computational efficiency.
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The process chain for peptidomic biomarker discovery.
PMID 16410650 · PMC3850862 · Disease markers · 2006 · 8 claims · 3 setups
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.
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Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.
PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups
FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family
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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
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Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.
PMID 18783588 · PMC2547096 · BMC medical genetics · 2008 · 8 claims · 5 setups
Five recurrent mutations (1806C>T, 300T>G, 300T>A, 5382insC in BRCA1; IVS16-2A>G in BRCA2) are responsible for the majority of BRCA1/2-positive Slovenian families
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Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP.
PMID 18588689 · PMC2474586 · BMC medical genetics · 2008 · 8 claims · 6 setups
A region spanning the gene RAI and the 5' portion of XPD is associated with postmenopausal breast cancer
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups
Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)
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Genomics, proteomics and bioinformatics: all in the same boat.
PMID 12374575 · PMC244909 · Genome biology · 2002 · 8 claims · 8 setups
Microarray sensitivity has improved enough to analyze clinical samples as small as 10-50 nanograms, and many early microarray experiments may need to be repeated due to data quality issues