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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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations
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Integrated omics in Drosophila uncover a circadian kinome.
PMID 32483184 · PMC7264355 · Nature communications · 2020 · 8 claims · 6 setups
iCMod, a computational pipeline integrating transcriptomic, proteomic, and phosphoproteomic circadian data, was developed to accurately identify normalized circadian p-sites (NCPs)
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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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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups
Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected
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Allele quantification using molecular inversion probes (MIP).
PMID 16314297 · PMC1301601 · Nucleic acids research · 2005 · 8 claims · 5 setups
MIP technology at high multiplex (>20,000 SNPs) can provide copy number measurements while simultaneously obtaining allele information
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Insights into the physiology of childbirth using transcriptomics.
PMID 16752954 · PMC1475648 · PLoS medicine · 2006 · 7 claims · 4 setups
Labor results in a change in the transcriptome in each component of the uterus studied
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Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
PMID 18366677 · PMC2324081 · BMC medical genetics · 2008 · 8 claims · 7 setups
Distinct sets of dysregulated genes are found in peripheral blood during the relapse phase versus the remission phase of RRMS
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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.
PMID 16778407 · PMC2729969 · Journal of Korean medical science · 2006 · 7 claims · 8 setups
The patient was diagnosed with cystic fibrosis based on elevated sweat chloride concentration and identification of two CFTR mutations.
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Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.
PMID 18567820 · PMC2518507 · Diabetes · 2008 · 8 claims · 5 setups
CDC123/CAMK1D rs12779790 risk allele (homozygous) is associated with decreased insulinogenic index, corrected insulin response (CIR), and AUC-insulin/AUC-glucose ratio, indicating impaired insulin release
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High-resolution array comparative genomic hybridization of single micrometastatic tumor cells.
PMID 18344524 · PMC2367728 · Nucleic acids research · 2008 · 7 claims · 8 setups
A protocol combining PCR-based whole genome amplification with arrays of highly purified BAC clones enables detection of DNA copy number changes in single cells
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p53 as a potential predictive factor of response to chemotherapy: feasibility of p53 assessment using a functional test in yeast from trucut biopsies in breast cancer patients.
PMID 11875738 · PMC2375302 · British journal of cancer · 2002 · 8 claims · 6 setups
p53 status can be reliably determined by yeast functional assay from single frozen sections of trucut biopsies
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups
Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes
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Variants in the vitamin D receptor gene and asthma.
PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups
VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region
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Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia.
PMID 19039135 · PMC2746051 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
Diagnosis and relapse ALL samples show different patterns of CNAs, with relapse-acquired abnormalities preferentially affecting cell cycle regulation and B-cell development genes
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A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.
PMID 20012890 · PMC2797846 · Behavior genetics · 2010 · 6 claims · 4 setups
SNP Microarrays and Pooling (SNP-MaP) is a valid economical method for genome-wide screening of quantitative trait extremes using pooled DNA on microarrays
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3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer.
PMID 19917133 · PMC2781828 · BMC genomics · 2009 · 8 claims · 4 setups
3' tag DGE transcript profiles are highly reproducible between technical and biological replicates, across libraries made at different labs, and across two generations of Illumina Genome Analyzers (GA I and GA II).
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Proteome analysis enables separate clustering of normal breast, benign breast and breast cancer tissues.
PMID 12865921 · PMC2394238 · British journal of cancer · 2003 · 6 claims · 3 setups
Hierarchical cluster analysis of 2-DE proteome data can distinguish normal breast, benign breast, and breast cancer tissues based on protein expression profiles
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Visualization of three-way comparisons of omics data.
PMID 17335588 · PMC1831488 · BMC bioinformatics · 2007 · 7 claims · 3 setups
A novel HSB (hue, saturation, brightness) color-coding scheme can represent three-way comparisons of corresponding datapoints from three datasets.
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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
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Genome amplification of single sperm using multiple displacement amplification.
PMID 15942023 · PMC1143700 · Nucleic acids research · 2005 · 8 claims · 7 setups
MDA was applied for the first time to whole-genome amplification of single sperm cell DNA