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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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.
PMID 15212689 · PMC441379 · BMC medical genetics · 2004 · 8 claims · 3 setups
Arg25Pro heterozygous genotype is significantly less frequent in CLP patients (3.3%) than in healthy controls (16.7%)
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
PMID 18076761 · PMC2222643 · BMC genomics · 2007 · 8 claims · 7 setups
A panel of 24 SNPs was selected and validated for human identification using 1,040 unrelated samples from three populations (Italian, Benin Gulf, Mongolian)
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Uncovering information on expression of natural antisense transcripts in Affymetrix MOE430 datasets.
PMID 17598913 · PMC1929078 · BMC genomics · 2007 · 8 claims · 4 setups
Standard Affymetrix expression GeneChips (MOE430, HG-U133) contain probe sets that detect natural antisense transcripts (NATs)
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The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.
PMID 19956657 · PMC2777318 · PloS one · 2009 · 6 claims · 4 setups
The FOXL2 c.402C>G mutation is not commonly found in a wide variety of other cancers and is likely pathognomonic for A-GCTs and closely related tumors.
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Has reproduction · 87
RNA-Seq transcriptome profiling identifies CRISPLD2 as a glucocorticoid responsive gene that modulates cytokine function in airway smooth muscle cells.
PMID 24926665 · PMC4057123 · PloS one · 2014 · 8 claims · 8 setups
Dexamethasone treatment (1 µM, 18 h) of primary human ASM cells differentially regulates 316 genes, including both known and previously uninvestigated glucocorticoid-responsive genes.
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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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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer.
PMID 17668422 · PMC2443273 · The Journal of pathology · 2007 · 8 claims · 4 setups
FGFR3 mutations occur in 42% of primary urothelial carcinomas and are significantly associated with low tumour grade and stage
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Testing whether genetic variation explains correlation of quantitative measures of gene expression, and application to genetic network analysis.
PMID 18444230 · PMC2729096 · Statistics in medicine · 2008 · 8 claims · 3 setups
A statistical test (delta method and Steiger-Browne optimal linear composites) is developed to test equality of the marginal correlation and the partial correlation of two gene expression traits conditional on a set of covariates.
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Has reproduction · 50
MEDUSA: A Pipeline for Sensitive Taxonomic Classification and Flexible Functional Annotation of Metagenomic Shotgun Sequences.
PMID 35330728 · PMC8940201 · Frontiers in genetics · 2022 · 6 claims · 6 setups
MEDUSA is an automated, Conda-installable and Snakemake-managed pipeline performing preprocessing, assembly, alignment, taxonomic classification, and functional annotation on shotgun data.
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Has reproduction · 65
FusionQ: a novel approach for gene fusion detection and quantification from paired-end RNA-Seq.
PMID 23768108 · PMC3691734 · BMC bioinformatics · 2013 · 8 claims · 8 setups
FusionQ is a novel tool that detects gene fusions, constructs chimerical transcript structures, and estimates their abundances from paired-end RNA-Seq data.
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The fragile breakage versus random breakage models of chromosome evolution.
PMID 16501665 · PMC1378107 · PLoS computational biology · 2006 · 8 claims · 6 setups
Sankoff and Trinh's synteny block identification algorithm (ST-Synteny) is flawed, producing erroneous block identifications even in small toy examples.
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Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.
PMID 18947387 · PMC2579299 · Molecular cancer · 2008 · 8 claims · 8 setups
A novel t(2;11)(q11.2;p15.1) translocation was identified as the sole cytogenetic abnormality in a childhood T-ALL case
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Biologic diversity of polyomavirus BK genomic sequences: Implications for molecular diagnostic laboratories.
PMID 18712842 · PMC2906129 · Journal of medical virology · 2008 · 8 claims · 5 setups
Coverage of naturally occurring BKV strains varies substantially among current PCR diagnostic assays due to primer/probe mismatches
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Gene expression study on peripheral blood identifies progranulin mutations.
PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups
PGRN is highly expressed in peripheral blood (97th percentile of all array genes)
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Has reproduction
Differential Infiltration of Key Immune T-Cell Populations Across Malignancies Varying by Immunogenic Potential and the Likelihood of Response to Immunotherapy.
PMID 39682743 · PMC11640164 · Cells · 2024 · 7 claims · 4 setups
Immune-activation-related T-cell populations (APA, TRM, stem-like, early/late dysfunctional T-cells) are more heavily infiltrated in ICI-responsive malignancies (melanoma, bladder) than in poorly responsive ones (ovarian, pancreatic).
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Proteomic screen defines the hepatocyte nuclear factor 1alpha-binding partners and identifies HMGB1 as a new cofactor of HNF1alpha.
PMID 18160415 · PMC2275099 · Nucleic acids research · 2008 · 8 claims · 8 setups
HMGB1 is a novel HNF1α-interacting protein identified via a co-IP-MS screening strategy