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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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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Infrequent involvement of p53 gene mutations in the tumourigenesis of Japanese prostate cancer.
PMID 7691145 · PMC1968625 · British journal of cancer · 1993 · 6 claims · 3 setups
p53 gene mutations are infrequent in the tumorigenesis of primary Japanese prostate cancer
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Colorectal cancer genomics: evidence for multiple genotypes which influence survival.
PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups
Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution
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Genome-wide estimation of transcript concentrations from spotted cDNA microarray data.
PMID 16204447 · PMC1243803 · Nucleic acids research · 2005 · 8 claims · 3 setups
A Bayesian model incorporating experimental covariates (array, pen, probe, dye, scanning) can estimate absolute transcript concentrations from spotted microarray intensities without needing calibration of each sample or gene individually
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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups
A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.
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Transcription factor binding sites in the pol gene intragenic regulatory region of HIV-1 are important for virus infectivity.
PMID 16061936 · PMC1182164 · Nucleic acids research · 2005 · 8 claims · 6 setups
Oct-1, Oct-2, PU.1, Sp1 and Sp3 interact in vitro with the pol gene HS7 region
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Has reproduction · 83
Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments.
PMID 22064864 · PMC3245177 · Nucleic acids research · 2012 · 8 claims · 5 setups
Gene Expression Atlas is an added-value database providing curated, re-annotated and statistically analysed gene expression data across cell types, organism parts, developmental stages, disease states and other biological/experimental conditions, derived from ArrayExpress Archive and the European Nucleotide Archive.
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The meso-genomic era.
PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups
Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).
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Update on diabetes mellitus.
PMID 15502249 · PMC3839330 · Disease markers · 2004 · 8 claims · 7 setups
Type 1 diabetes results from selective destruction of pancreatic beta cells via T-cell and cytokine mediated autoimmune mechanisms, possibly involving destruction of peri-islet Schwann cells.
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The lords of the genomes.
PMID 15461811 · PMC545592 · Genome biology · 2004 · 8 claims · 8 setups
Functionally active clusters of transcription-factor binding sites are evolutionarily conserved between Drosophila species, whereas inactive clusters are not, even when sequence identity alone cannot distinguish them
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The UCSC Genome Browser Database: update 2006.
PMID 16381938 · PMC1347506 · Nucleic acids research · 2006 · 8 claims · 8 setups
The UCSC Genome Browser Database (GBD) provides integrated sequence and annotation data, with web tools (Genome Browser, Table Browser, Proteome Browser, Gene Sorter, BLAT, In Silico PCR) for visualizing and querying genomes of about a dozen vertebrate species and several model organisms.
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Proteomics technologies and challenges.
PMID 17893073 · PMC5054093 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups
The proteome reflects the dynamic state of a cell, tissue, or organism more accurately than the genome, so proteomics is expected to yield better disease markers for diagnosis and therapy monitoring.
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Improvements to cardiovascular gene ontology.
PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups
Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.
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Human genetics branches out in Barcelona.
PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups
A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect
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Mathematical models in mammalian cell biology.
PMID 18638360 · PMC2530880 · Genome biology · 2008 · 8 claims · 8 setups
A point mutation in the circadian Per2 gene causes familial advanced sleep phase syndrome (FASPS) via a phosphorylation defect that alters PER2 stability and subcellular localization.
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miRGen 2.0: a database of microRNA genomic information and regulation.
PMID 19850714 · PMC2808909 · Nucleic acids research · 2010 · 7 claims · 6 setups
miRGen 2.0 is a database providing comprehensive information about the genomic position of human and mouse microRNA coding transcripts and their regulation by transcription factors
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The ENCODE Project at UC Santa Cruz.
PMID 17166863 · PMC1781110 · Nucleic acids research · 2007 · 8 claims · 4 setups
The UCSC ENCODE portal serves as the primary repository and access point for sequence-based ENCODE pilot phase data
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Has reproduction · 88
Brown adipose tissue thermogenic adaptation requires Nrf1-mediated proteasomal activity.
PMID 29400713 · PMC5839993 · Nature medicine · 2018 · 8 claims · 10 setups
Cold adaptation increases proteasomal activity in BAT, which is required for non-shivering thermogenesis
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Has reproduction · 94
Eye in a Disk: eyeIntegration Human Pan-Eye and Body Transcriptome Database Version 1.0.
PMID 31343654 · PMC6660187 · Investigative ophthalmology & visual science · 2019 · 8 claims · 5 setups
EiaD is a reproducible, versioned RNA-seq transcriptome dataset combining 916 healthy human eye samples and 1375 GTEx body samples across 19 eye and 54 body tissues, built with a Snakemake pipeline and served as a single SQLite database.
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Has reproduction · 73
Expression Patterns of Immune Genes Reveal Heterogeneous Subtypes of High-Risk Neuroblastoma.
PMID 32629858 · PMC7408437 · Cancers · 2020 · 8 claims · 8 setups
Unsupervised biclustering of 283 NB-specific immune genes stratifies HR-NB into two reproducible subtypes: ultra-high-risk (UHR-NB) and (revised) HR-NB.