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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Has reproduction · 83
A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.
PMID 36694043 · PMC9873918 · Communications biology · 2023 · 8 claims · 7 setups
The DSS phenotype-by-time interaction defines parsimonious temporal (dynamic) expression and splicing signatures of acute and chronic colitis distinct from time-specific differential expression.
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Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.
PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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Low frequency of E-cadherin alterations in familial breast cancer.
PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups
No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus
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MMASS: an optimized array-based method for assessing CpG island methylation.
PMID 17041235 · PMC1635254 · Nucleic acids research · 2006 · 8 claims · 7 setups
MMASS-v2 (optimized AciI/HinP1I/HpyCH4IV/HpaII enzyme combination with McrBC digestion) offers improved sensitivity and statistical power for microarray-based CpG island methylation detection compared to MMASS-v1, MMASS-sub and the Nouzova method
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Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.
PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups
A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype
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Has reproduction · 45
Single-Cell Analysis Reveals Characterization of Infiltrating T Cells in Moderately Differentiated Colorectal Cancer.
PMID 33584715 · PMC7873865 · Frontiers in immunology · 2020 · 8 claims · 7 setups
Eight distinct T cell populations are identifiable in CRC tumor tissue and seven in peripheral blood by unsupervised clustering of scRNA-seq data.
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Has reproduction · 70
The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.
PMID 38839750 · PMC11153611 · Nature communications · 2024 · 8 claims · 8 setups
Intestinal epithelial cell-specific deletion of Slc39a8 causes systemic manganese (Mn) deficiency in blood and multiple organs.
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Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.
PMID 19789318 · PMC2756455 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups
2q37 harbors a tumor suppressor gene important in Wilms tumor pathogenesis
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Has reproduction · 89
miRge 2.0 for comprehensive analysis of microRNA sequencing data.
PMID 30153801 · PMC6112139 · BMC bioinformatics · 2018 · 8 claims · 6 setups
miRge 2.0 introduces a novel SVM-based miRNA detection method using both hairpin structure and isomiR composition, yielding higher specificity for miRNA identification
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Towards precise classification of cancers based on robust gene functional expression profiles.
PMID 15774002 · PMC1274255 · BMC bioinformatics · 2005 · 6 claims · 7 setups
Functional expression profiles (FEPs) achieve comparable or better classification performance than conventional gene expression profiles (GEPs) across four public microarray datasets
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Has reproduction · 94
Hierarchical cell-type identifier accurately distinguishes immune-cell subtypes enabling precise profiling of tissue microenvironment with single-cell RNA-sequencing.
PMID 36681937 · PMC10025442 · Briefings in bioinformatics · 2023 · 8 claims · 8 setups
HiCAT is a hierarchical, marker-based cell-type identifier that uses gene set analysis (GSA) scoring with markers structured in a three-level taxonomy tree (major-type, minor-type, subset)
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Has reproduction · 64
Characterizing Neutrophil Subtypes in Cancer Using scRNA Sequencing Demonstrates the Importance of IL1β/CXCR2 Axis in Generation of Metastasis-specific Neutrophils.
PMID 38358352 · PMC10903300 · Cancer research communications · 2024 · 8 claims · 7 setups
Two main neutrophil subtypes exist in primary tumors: an activated subtype sharing transcriptomic signatures with healthy neutrophils, and a tumor-specific subtype.
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Has reproduction · 88
pwrEWAS: a user-friendly tool for comprehensive power estimation for epigenome wide association studies (EWAS).
PMID 31035919 · PMC6489300 · BMC bioinformatics · 2019 · 8 claims · 8 setups
pwrEWAS is a user-friendly tool for comprehensive power estimation for two-group EWAS comparisons using Illumina Human Methylation BeadChip data.
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Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.
PMID 9484816 · PMC2149930 · British journal of cancer · 1998 · 6 claims · 5 setups
DCC protein expression is lost in the majority of colorectal tumours while retained in all normal colonic tissue
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Has reproduction · 67
Optimal scaling of digital transcriptomes.
PMID 24223126 · PMC3819321 · PloS one · 2013 · 8 claims · 8 setups
Fifteen existing and novel transcript-count normalization algorithms can be compared with two novel, mutually independent metrics: the number of "uniform" genes (sufficiently low coefficient of variation after normalization) and low average Spearman correlation between normalized expression profiles of gene pairs.
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Putting science over supposition in the arena of personalized genomics.
PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups
There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.
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A case of Birt-Hogg-Dubé syndrome.
PMID 18437022 · PMC2526433 · Journal of Korean medical science · 2008 · 6 claims · 3 setups
A novel deletion mutation (p.F519LfsX17 [c.1557delT]) in exon 14 of the BHD (FLCN) gene causes a truncated folliculin protein and is the cause of Birt-Hogg-Dubé syndrome in this patient
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups
IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria