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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F-SNP: computationally predicted functional SNPs for disease association studies.
PMID 17986460 · PMC2238878 · Nucleic acids research · 2008 · 6 claims · 8 setups
F-SNP is a database integrating functional effect predictions for SNPs from 16 bioinformatics tools/databases across four categories: splicing, transcription, translation, and post-translation
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Rapid detection and curation of conserved DNA via enhanced-BLAT and EvoPrinterHD analysis.
PMID 18307801 · PMC2268679 · BMC genomics · 2008 · 8 claims · 8 setups
eBLAT detects up to 75% more conserved bases than original BLAT alignments, with the largest gains between evolutionarily distant orthologs
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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Characterization of the human DYRK1A promoter and its regulation by the transcription factor E2F1.
PMID 18366763 · PMC2292204 · BMC molecular biology · 2008 · 8 claims · 8 setups
Transcription start sites of human DYRK1A are distributed over an 800 bp region within an unmethylated CpG island
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Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.
PMID 15722479 · PMC549431 · Nucleic acids research · 2005 · 7 claims · 4 setups
Two base deletion probes display the highest average hybridization specificity, followed by single base substitution, single base deletion, and single base insertion probes.
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.
PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups
SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Inferring combinatorial regulation of transcription in silico.
PMID 15647509 · PMC546154 · Nucleic acids research · 2005 · 8 claims · 5 setups
Combining Cluster-Buster (TFBS cluster prediction) with GOSSIP (rigorous GO enrichment statistics with multiple-testing/FDR correction) predicts biological functions controlled by combinatorial transcription factor action, without prior knowledge of factor targets
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Improvements to GALA and dbERGE II: databases featuring genomic sequence alignment, annotation and experimental results.
PMID 15608239 · PMC539999 · Nucleic acids research · 2005 · 8 claims · 8 setups
GALA is now a set of interlinked relational databases covering five vertebrate species: human, chimpanzee, mouse, rat and chicken.
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Mutation analysis of the MDM4 gene in German breast cancer patients.
PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups
Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients
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Mutation analysis of the MSMB gene in familial prostate cancer.
PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups
No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases
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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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Epigenetics and phenotypic variation in mammals.
PMID 16688527 · PMC3906716 · Mammalian genome : official journal of the International Mammalian Genome Society · 2006 · 8 claims · 8 setups
Epigenetic modifications are mitotically heritable, but the fidelity of meiotic/transgenerational inheritance in mammals is poorly understood and evidence in mammals is scanty.
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An optimized procedure for the design and evaluation of Ecotilling assays.
PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups
An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays
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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups
Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip
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In silico comparative genomic analysis of GABAA receptor transcriptional regulation.
PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups
Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes
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Sequencing the regulatory genome.
PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups
Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)
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Atlas of nascent RNA transcripts reveals tissue-specific enhancer to gene linkages.
PMID 40281430 · PMC12032694 · BMC genomics · 2025 · 7 claims · 8 setups
A large repository of nascent run-on RNA-seq samples (DBNascent) was assembled and uniformly processed to identify sites of bidirectional transcription genome-wide.