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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Fucosylated glycoproteins as markers of liver disease.
PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups
Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP
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Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy.
PMID 16984653 · PMC1618409 · BMC bioinformatics · 2006 · 8 claims · 6 setups
The proposed feature set outperforms existing published feature sets for predicting effects of amino acid substitutions
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Has reproduction · 85
Exploring microproteins from various model organisms using the mip-mining database.
PMID 37919660 · PMC10623795 · BMC genomics · 2023 · 5 claims · 4 setups
Mip-mining is a database of 336 curated RNA-seq datasets from 8626 samples across nine species, built specifically to explore microprotein functions under stress and disease conditions
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Exhaustive prediction of disease susceptibility to coding base changes in the human genome.
PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.
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Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.
PMID 15784611 · PMC1069129 · Nucleic acids research · 2005 · 7 claims · 8 setups
Position-specific phylogenetic features describing evolutionary conservation at a site (e.g. SIFT score, normalized site entropy, residue frequency change) are the best individual discriminators of disease-causing versus neutral GPCR mutations.
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An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.
PMID 19091018 · PMC2638159 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Existing SNP/disease databases are fragmented; no combined resource widely supports gene-, SNP-, and disease-related information together
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nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms.
PMID 15980516 · PMC1160133 · Nucleic acids research · 2005 · 6 claims · 4 setups
nsSNPAnalyzer is a web server that predicts whether a query nsSNP is disease-associated or functionally neutral using a Random Forest classifier combining structural and evolutionary information
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Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan.
PMID 10362120 · PMC2363055 · British journal of cancer · 1999 · 7 claims · 4 setups
p53 gene mutation rate is high in arsenic-related skin cancers (39% Bowen's disease, 28.6% BCC, 55.6% SCC)
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Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.
PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups
Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation
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MutDB: update on development of tools for the biochemical analysis of genetic variation.
PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups
MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)
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Genome bioinformatic analysis of nonsynonymous SNPs.
PMID 17708757 · PMC1978506 · BMC bioinformatics · 2007 · 8 claims · 8 setups
Structure- and sequence-based prediction tools can generally distinguish disease-causing mutations from neutral ones
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A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups
NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay
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PCP consensus sequences of flaviviruses: correlating variance with vector competence and disease phenotype.
PMID 19969003 · PMC2822003 · Journal of molecular biology · 2010 · 7 claims · 7 setups
PCP-consensus sequences of E protein show insertions/deletions that distinguish tick-borne, mosquito-borne, no-known-vector (NKV), and yellow fever virus (YFV) Flaviviruses
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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Has reproduction · 85
Systematic Analysis of Long Non-Coding RNA Genes in Nonalcoholic Fatty Liver Disease.
PMID 35893239 · PMC9332188 · Non-coding RNA · 2022 · 6 claims · 5 setups
Many lncRNAs, like protein-coding genes, are differentially expressed in NAFLD patients compared to healthy normal-weight and obese individuals.
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Molecular characterization of Campylobacter jejuni clones: a basis for epidemiologic investigation.
PMID 12194772 · PMC2732546 · Emerging infectious diseases · 2002 · 8 claims · 5 setups
Clonal complex, as defined by MLST, is an epidemiologically relevant unit for long- and short-term investigation of C. jejuni epidemiology.
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In silico segmentations of lentivirus envelope sequences.
PMID 17376229 · PMC1847453 · BMC bioinformatics · 2007 · 8 claims · 8 setups
C and V regions of lentivirus SU sequences have distinct statistical (oligonucleotide/amino-acid) compositions that HMMs can learn and use to delimit them.
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Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.
PMID 19758473 · PMC2745591 · BMC bioinformatics · 2009 · 8 claims · 8 setups
None of 39 tested structural properties can be used as a sole classification criterion to separate neutral SNPs from disease mutations.
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SNAP predicts effect of mutations on protein function.
PMID 18757876 · PMC2562009 · Bioinformatics (Oxford, England) · 2008 · 8 claims · 3 setups
SNAP is a publicly available web-server implementation predicting functional effects (neutral/non-neutral) of single amino acid substitutions.
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Two committees tackle toxicogenomics.
PMID 12501852 · PMC1241123 · Environmental health perspectives · 2002 · 8 claims · 8 setups
NIEHS funded a $37 million, five-year Toxicogenomics Research Consortium (TRC) linking the NIEHS Microarray Center with five academic institutions (UNC, Duke, Fred Hutchinson/UW, MIT, OHSU) to coordinate gene-expression research on environmental health effects.