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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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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Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
PMID 18836301 · PMC3196984 · Channels (Austin, Tex.) · 2008 · 8 claims · 4 setups
I781T in CaV1.2 shifts the voltage-dependence of activation and inactivation to hyperpolarized voltages, reproducing the channelopathy-like gating phenotype of CaV1.4 I745T
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Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.
PMID 19744331 · PMC2749040 · BMC structural biology · 2009 · 8 claims · 1 setups
The simulation-derived JH1/JH2 interface provides a platform that explains the mutational effect of all tested mutants, including presumably benign controls, at the atomic level
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Has reproduction · 94
Deep learning from phylogenies to uncover the epidemiological dynamics of outbreaks.
PMID 35794110 · PMC9258765 · Nature communications · 2022 · 8 claims · 5 setups
Deep learning (FFNN-SS and CNN-CBLV) enables accurate and fast likelihood-free estimation of epidemiological parameters and model selection from phylogenies
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Synonymous substitution rates predict HIV disease progression as a result of underlying replication dynamics.
PMID 17305421 · PMC1797821 · PLoS computational biology · 2007 · 8 claims · 8 setups
The synonymous substitution rate (dS) of HIV env is strongly correlated with disease progression parameters (progression time, CD4+ decline rate, viral load increase rate), unlike the nonsynonymous rate (dN).
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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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A comprehensive sensitivity analysis of microarray breast cancer classification under feature variability.
PMID 19941644 · PMC2789744 · BMC bioinformatics · 2009 · 7 claims · 4 setups
Feature variability strongly influences breast cancer signature composition even when array platform and patient stratification are identical.
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Threshold-dominated regulation hides genetic variation in gene expression networks.
PMID 18062810 · PMC2238762 · BMC systems biology · 2007 · 8 claims · 2 setups
Threshold robustness (insensitivity of a singular/regulating variable's equilibrium value to parameter perturbations, except threshold changes) increases with increasing response function steepness and is present even under Michaelis-Menten conditions, not just in the step-function limit.
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Has reproduction · 75
An informatics research platform to make public gene expression time-course datasets reusable for more scientific discoveries.
PMID 33247935 · PMC7698665 · Database : the journal of biological databases and curation · 2020 · 8 claims · 6 setups
GETc enables discovery and visualization of time-course gene expression data and analytical results from GEO
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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups
Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes
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Altered spin state equilibrium in the T309V mutant of cytochrome P450 2D6: a spectroscopic and computational study.
PMID 17318599 · PMC1915625 · Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2007 · 7 claims · 7 setups
The T309V mutation shifts the CYP2D6 heme spin equilibrium toward the six-coordinate low-spin (6cLS) state, decreasing the five-coordinate high-spin (5cHS) fraction relative to wild type.
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Delineation of a gene network underlying the pulmonary response to oxidative stress in asthma.
PMID 19730131 · PMC3328512 · Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2009 · 8 claims · 6 setups
Integration of multiple public microarray datasets via a four-way Venn diagram identifies genes commonly expressed in asthma- and cigarette smoke-exposed lung
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The UCSC Proteome Browser.
PMID 15608236 · PMC540054 · Nucleic acids research · 2005 · 8 claims · 5 setups
The UCSC Proteome Browser is tightly integrated with the UCSC Genome Browser, giving users simultaneous access to genome and proteome data.
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Adapting to a changing world: RAG genomics and evolution.
PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups
RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.
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Solving structures of protein complexes by molecular replacement with Phaser.
PMID 17164524 · PMC2483468 · Acta crystallographica. Section D, Biological crystallography · 2007 · 7 claims · 4 setups
Maximum-likelihood MR functions enable complex asymmetric units to be built up from individual components using a 'tree search with pruning' approach implemented in Phaser's automated MR mode.
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Duplication count distributions in DNA sequences.
PMID 19256873 · PMC3121164 · Physical review. E, Statistical, nonlinear, and soft matter physics · 2008 · 8 claims · 8 setups
Duplication count distributions N(c) for complex 40-mers show power-law-like decay for c roughly 3 to 50 (or higher) across human, C. elegans, A. thaliana, and D. melanogaster genomes.
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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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MLST clustering of Campylobacter jejuni isolates from patients with gastroenteritis, reactive arthritis and Guillain-Barré syndrome.
PMID 19702866 · PMC3985121 · Journal of applied microbiology · 2010 · 8 claims · 4 setups
Danish C. jejuni isolates from gastroenteritis, RA and GBS patients are highly genetically diverse, comprising 51 STs within 18 clonal complexes among 122 isolates.
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Toxicogenomics: an emerging discipline.
PMID 12460812 · PMC1241126 · Environmental health perspectives · 2002 · 8 claims · 6 setups
Toxicogenomics applies genomic tools (microarrays, proteomics, metabolomics) to characterize how cells and organisms respond to chemical/drug exposures.