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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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups
Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.
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Extraction of human kinase mutations from literature, databases and genotyping studies.
PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups
A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text
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Human protein reference database--2006 update.
PMID 16381900 · PMC1347503 · Nucleic acids research · 2006 · 7 claims · 6 setups
HPRD is a comprehensive, continually expanded resource cataloging human protein domains, PTMs, protein-protein interactions, and other annotations.
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Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps.
PMID 15601531 · PMC3525001 · Human genomics · 2003 · 8 claims · 4 setups
The MGR algorithm applied to human, mouse, cat and cattle comparative maps can impute an ancestral mammalian genome composed of conserved segments.
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QTL MatchMaker: a multi-species quantitative trait loci (QTL) database and query system for annotation of genes and QTL.
PMID 16381937 · PMC1347390 · Nucleic acids research · 2006 · 8 claims · 5 setups
QTL MatchMaker integrates QTL information with physical, genetic and cytogenetic maps across human, mouse and rat genomes
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups
Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models
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INTERFEROME: the database of interferon regulated genes.
PMID 18996892 · PMC2686605 · Nucleic acids research · 2009 · 8 claims · 6 setups
INTERFEROME is an open-access database integrating IRG expression data with annotation, orthologue sequences from 37 species, tissue expression, and gene regulatory (TFBS) information
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A comprehensive literature review of haplotyping software and methods for use with unrelated individuals.
PMID 15814067 · PMC3525117 · Human genomics · 2005 · 7 claims · 2 setups
Forty-six haplotyping programs were identified and reviewed, split into 43 designed for individual genotype data and three designed for pooled DNA samples.
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A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups
Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis
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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups
15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)
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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups
The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)
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GLIDA: GPCR--ligand database for chemical genomics drug discovery--database and tools update.
PMID 17986454 · PMC2238933 · Nucleic acids research · 2008 · 7 claims · 5 setups
GLIDA is a public relational database integrating biological information on GPCRs with chemical information on their ligands and their binding interactions.
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A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus.
PMID 18631455 · PMC2727981 · Immunity · 2008 · 7 claims · 8 setups
Transcriptional modules constructed from coordinately expressed genes across 8 diseases form stable, biologically coherent functional units
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An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.
PMID 18445289 · PMC2386494 · BMC bioinformatics · 2008 · 8 claims · 6 setups
Using RNAsubopt suboptimal solutions computed once for the wild-type sequence, specific multiple-point mutations likely to cause conformational rearrangement can be selected without brute-force enumeration.
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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups
MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations
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Has reproduction · 69
Automatic discovery of 100-miRNA signature for cancer classification using ensemble feature selection.
PMID 31533612 · PMC6751684 · BMC bioinformatics · 2019 · 7 claims · 8 setups
An ensemble feature selection method based on classifier consensus identifies a robust 100-miRNA signature from TCGA data.
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Is replication the gold standard for validating genome-wide association findings?
PMID 19112512 · PMC2605260 · PloS one · 2008 · 8 claims · 4 setups
The probability of replicating a specific GWA-identified variant decreases as the number of independent GWA/replication studies increases, when individual study power is less than 100%.
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Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.
PMID 19758467 · PMC2745585 · BMC bioinformatics · 2009 · 8 claims · 4 setups
MutationTagger achieves 87% F-measure for the mutation retrieval task on a benchmark dataset
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Systematic analysis of human kinase genes: a large number of genes and alternative splicing events result in functional and structural diversity.
PMID 16351747 · PMC1866387 · BMC bioinformatics · 2005 · 8 claims · 7 setups
Systematic in silico search identified 5 novel human kinase genes (on chromosomes 1, 11, 13, 15, 16) and 1 pseudogene (chromosome X) absent from KinBase