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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Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.
PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups
The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438
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Evolution of variants of yeast site-specific recombinase Flp that utilize native genomic sequences as recombination target sites.
PMID 17003057 · PMC1635253 · Nucleic acids research · 2006 · 8 claims · 8 setups
Stepwise directed evolution using chimeric FLRT (FRT/genomic hybrid) intermediate sites can generate Flp variants capable of recombining native genomic FRT-like sequences from the human IL10 gene (FL-IL10A, FL-IL10B).
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Virus variant quantification with Orthanq.
PMID 41639627 · PMC12930645 · BMC bioinformatics · 2026 · 8 claims · 6 setups
Orthanq performs identification and uncertainty-aware quantification of known virus variants of any virus species, including in samples with mixed infections
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Has reproduction · 95
In vivo structural characterization of the SARS-CoV-2 RNA genome identifies host proteins vulnerable to repurposed drugs.
PMID 33636127 · PMC7871767 · Cell · 2021 · 8 claims · 8 setups
icSHAPE was used to determine the in vivo and in vitro structural landscape of the SARS-CoV-2 RNA genome in infected Huh7.5.1 cells, plus UTR structures of six other coronaviruses
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APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups
Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.
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Nutrigenomics: the genome--food interface.
PMID 18087577 · PMC2137135 · Environmental health perspectives · 2007 · 8 claims · 8 setups
Nutrigenomics integrates genomic science with nutrition to study how dietary components affect gene expression, the proteome, and the metabolome.
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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
PMID 18036263 · PMC2246181 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Revised multifactorial likelihood analysis incorporating ER, CK5/6, and CK14 tumor immunohistochemistry improves classification of BRCA1 unclassified variants
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Mycoplasma genitalium: an efficient strategy to generate genetic variation from a minimal genome.
PMID 17784912 · PMC2169797 · Molecular microbiology · 2007 · 8 claims · 6 setups
MG192 is highly variable among and within M. genitalium strains both in vitro and in vivo
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Has reproduction · 89
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.
PMID 41729082 · PMC12956005 · JCI insight · 2026 · 8 claims · 8 setups
TLR8 A518T is a gain-of-function variant that enhances NF-κB activation and increases secretion of proinflammatory cytokines upon stimulation compared with WT TLR8
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Has reproduction · 93
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
PMID 38600112 · PMC11006913 · Nature communications · 2024 · 8 claims · 5 setups
Many of the 92 assayed HD missense variants alter DNA binding affinity and/or specificity compared to their corresponding reference alleles
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.
PMID 12237774 · PMC2364248 · British journal of cancer · 2002 · 8 claims · 8 setups
RhoA, RhoB, Rac1 and Cdc42 protein levels are markedly overexpressed in breast tumours compared to matched normal tissue from the same patient
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Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.
PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups
Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Therapeutic synergies that overcome carboplatin resistance in triple-negative breast cancer.
PMID 41630032 · PMC13037280 · Journal of experimental & clinical cancer research : CR · 2026 · 8 claims · 8 setups
Four isogenic carboplatin-resistant (CR) PDX pairs (WHIM30, BCM-2147, BCM-3887, BCM-7482) were generated via serial in vivo carboplatin exposure to model acquired resistance in TNBC
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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A clustering property of highly-degenerate transcription factor binding sites in the mammalian genome.
PMID 16670430 · PMC1456330 · Nucleic acids research · 2006 · 8 claims · 7 setups
Highly-degenerate RE1 sites are significantly enriched in promoters of validated and putative REST target genes compared to control promoters
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"Sequencing-grade" screening for BRCA1 variants by oligo-arrays.
PMID 18973698 · PMC2583995 · Journal of translational medicine · 2008 · 7 claims · 6 setups
An oligo-array platform can detect BRCA1 SNPs, insertions, and deletions of known and unknown variants, including in heterozygous conditions, with accuracy comparable to direct sequencing
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Human QTL linkage mapping.
PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups
Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels
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Genomic views of distant-acting enhancers.
PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups
Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.