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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PDA: Pooled DNA analyzer.
PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups
No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests
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Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.
PMID 1486852 · PMC1519600 · Environmental health perspectives · 1992 · 5 claims · 4 setups
A new protocol combining en masse 6-thioguanine-resistant mutant selection, high-fidelity PCR amplification, and DGGE separation can determine point mutational spectra in human cells with high precision and reproducibility
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Has reproduction · 88
CIRCprimerXL: Convenient and High-Throughput PCR Primer Design for Circular RNA Quantification.
PMID 36304334 · PMC9580850 · Frontiers in bioinformatics · 2022 · 8 claims · 5 setups
CIRCprimerXL is a high-throughput, user-friendly circRNA RT-qPCR primer design pipeline available as both a web tool and a standalone Nextflow/Docker pipeline
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K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.
PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups
K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event
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Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups
The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers
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Assessing individual differences in genome-wide gene expression in human whole blood: reliability over four hours and stability over 10 months.
PMID 19653838 · PMC3819565 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 8 claims · 5 setups
A subset of probesets (3,414) shows 4-hour test-retest reliability exceeding r=0.70 for detecting individual differences in gene expression.
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Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
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Examination of tetrahydrobiopterin pathway genes in autism.
PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups
PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset
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Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.
PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups
All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).
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Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.
PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups
Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours
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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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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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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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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools.
PMID 16912992 · PMC1538848 · Nucleic acids research · 2006 · 7 claims · 8 setups
PANTHER HMMs built from family/subfamily multiple sequence alignments can classify novel protein sequences into functional groups based on statistically significant HMM match scores
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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups
Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.
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Has reproduction · 87
NK2R control of energy expenditure and feeding to treat metabolic diseases.
PMID 39537932 · PMC11602716 · Nature · 2024 · 8 claims · 8 setups
NK2R activation is sufficient to suppress appetite centrally and increase energy expenditure peripherally
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A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11.
PMID 16098226 · PMC1208879 · BMC genetics · 2005 · 8 claims · 7 setups
PAX6 interacts with three novel proteins: HOMER3, DNCL1 and TRIM11