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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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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Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
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Pol II promoter prediction using characteristic 4-mer motifs: a machine learning approach.
PMID 18834544 · PMC2575220 · BMC bioinformatics · 2008 · 8 claims · 8 setups
128 discriminating 4-mer motifs combined with an SVM (RBF kernel, LIBSVM) can distinguish promoter from non-promoter DNA sequences
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Prediction-based approaches to characterize bidirectional promoters in the mammalian genome.
PMID 18366609 · PMC2386062 · BMC genomics · 2008 · 8 claims · 7 setups
The mapping algorithm identified 5,647 candidate bidirectional promoter regions in the mouse genome, similar in number to those previously found in human.
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SNP@Promoter: a database of human SNPs (single nucleotide polymorphisms) within the putative promoter regions.
PMID 18315851 · PMC2259403 · BMC bioinformatics · 2008 · 8 claims · 4 setups
SNP@Promoter is a database of human SNPs within putative promoter regions and predicted transcription factor binding sites
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The biological function of some human transcription factor binding motifs varies with position relative to the transcription start site.
PMID 18367472 · PMC2377430 · Nucleic acids research · 2008 · 8 claims · 5 setups
1226 eight-letter DNA words show statistically significant positional preferences relative to the TSS across 7914 human promoter regions
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Identification of functional SNPs in the 5-prime flanking sequences of human genes.
PMID 15717931 · PMC550646 · BMC genomics · 2005 · 6 claims · 5 setups
7 of 10 candidate SNPs tested by EMSA showed reproducible allele-specific differences in TF-DNA complex binding/stability
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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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Motif discovery in promoters of genes co-localized and co-expressed during myeloid cells differentiation.
PMID 19059999 · PMC2632922 · Nucleic acids research · 2009 · 6 claims · 8 setups
A novel multi-step computational method (built on approximate pattern enumeration, binomial over-representation scoring with FDR correction, and k-medoids clustering) can identify over-represented motifs in a selected set of promoters relative to a background promoter set.
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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
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.
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Has reproduction · 94
A multiple super-enhancer region establishes inter-TAD interactions and controls Hoxa function in cranial neural crest.
PMID 37277355 · PMC10241789 · Nature communications · 2023 · 8 claims · 8 setups
2232 genome-wide putative super-enhancers (SEs) were identified in mouse cranial neural crest cell (CNCC) subpopulations
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Has reproduction
Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets.
PMID 35672799 · PMC9175345 · Genome biology · 2022 · 8 claims · 7 setups
CD4+ T cells and B cells independently and significantly contribute to MS GWAS heritability enrichment, distinct from a merely shared immune regulatory landscape.
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Identifying synonymous regulatory elements in vertebrate genomes.
PMID 15980499 · PMC1160227 · Nucleic acids research · 2005 · 7 claims · 4 setups
SynoR is a tool that performs de novo genome-wide identification of synonymous regulatory elements (SREs) using evolutionarily conserved TFBS modules as seeds
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In silico discovery of transcription regulatory elements in Plasmodium falciparum.
PMID 18257930 · PMC2268928 · BMC genomics · 2008 · 7 claims · 8 setups
GEMS, using hypergeometric scoring and PWM parameter optimization, reliably identifies high-confidence cis-regulatory elements in the AT-rich, repeat-rich P. falciparum genome
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Has reproduction
Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data.
PMID 35473573 · PMC9044877 · Genome biology · 2022 · 8 claims · 8 setups
Combining multiple enhancer-definition and enhancer-gene link data sources yields 1860 genome-wide EnTDefs covering >500 cell types
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Has reproduction · 62
Application of alternative de novo motif recognition models for analysis of structural heterogeneity of transcription factor binding sites: a case study of FOXA2 binding sites.
PMID 34547062 · PMC8408018 · Vavilovskii zhurnal genetiki i selektsii · 2021 · 8 claims · 4 setups
MultiDeNA pipeline combines PWM, diPWM, BaMM and InMoDe models to train, evaluate, threshold, and classify ChIP-seq peaks for TFBS structural heterogeneity
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The MAPPER database: a multi-genome catalog of putative transcription factor binding sites.
PMID 15608292 · PMC540057 · Nucleic acids research · 2005 · 8 claims · 6 setups
Built a library of 1134 HMM models (359 matrix-derived, 718 factor-derived, 57 JASPAR-derived), corresponding to 863 distinct TF names, from TRANSFAC and JASPAR binding site data
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FeatureScan: revealing property-dependent similarity of nucleotide sequences.
PMID 16845077 · PMC1538849 · Nucleic acids research · 2006 · 6 claims · 5 setups
FeatureScan transforms nucleotide sequences into numerical signals of physico-chemical/conformational properties and compares them via a convolution/correlation (Fourier transform) method rather than comparing letters
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PRKCA and multiple sclerosis: association in two independent populations.
PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups
PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families
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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups
Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.