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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Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.
PMID 41547351 · PMC13069856 · Cell genomics · 2026 · 8 claims · 8 setups
Otari, an attention-based graph neural network trained on long-read transcriptomes across 30 tissues/brain regions, predicts tissue-specific differential isoform abundance
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Genome-scale modeling identifies dynamic metabolic vulnerabilities during the epithelial to mesenchymal transition.
PMID 39730911 · PMC11681178 · Communications biology · 2024 · 8 claims · 8 setups
EMT involves temporal, stage-specific metabolic reprogramming with distinct dependencies in glycolysis and glutamine metabolism.
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Dysregulation of alternative splicing patterns in the ovaries of reproductively aged mice.
PMID 41630016 · PMC13046076 · Reproduction (Cambridge, England) · 2026 · 8 claims · 5 setups
Reproductive aging in mouse ovaries is associated with widespread alternative splicing changes, including shifts in exon usage, splice site selection, and transcript boundaries.
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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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ASPIC: a web resource for alternative splicing prediction and transcript isoforms characterization.
PMID 16845044 · PMC1538898 · Nucleic acids research · 2006 · 8 claims · 2 setups
The ASPIC algorithm, using an optimization procedure that minimizes splice site predictions and transcript isoforms from multiple EST-genome alignments, outperforms other similar AS-prediction tools in sensitivity and selectivity
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Large-scale analysis of human alternative protein isoforms: pattern classification and correlation with subcellular localization signals.
PMID 15860772 · PMC1087780 · Nucleic acids research · 2005 · 8 claims · 8 setups
Constructed a large-scale dataset of 6876 human alternative protein isoforms from 2624 genes by combining H-Invitational full-length cDNA data and SwissProt VARSPLIC entries
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High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.
PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups
The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.
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Integrated transcriptome and single-cell sequencing analysis identify blood-pancreas shared lncRNA biomarkers in new-onset T2DM.
PMID 41915667 · PMC13037964 · PloS one · 2026 · 8 claims · 6 setups
1,709 lncRNAs are differentially expressed in peripheral blood of new-onset T2DM patients vs controls
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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
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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 · 8 setups
Disease-specific temporal (dynamic) gene expression and splicing signatures, distinct from fixed timepoint differential expression, can be derived from DSS and adoptive transfer colitis models to capture acute-chronic disease dynamics
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A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups
SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters
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Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups
BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant
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Long-read assembly reveals vast transcriptional complexity in the placenta associated with metabolic and endocrine function.
PMID 41927596 · PMC13219539 · Nature communications · 2026 · 8 claims · 8 setups
Long-read RNA-seq of 72 term placentas yields a high-confidence reference of 37,661 isoforms across 12,302 genes, including thousands of previously unannotated isoforms and genes
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Nonsense-mediated mRNA decay inhibition reshapes the cancer immunopeptidome.
PMID 41956098 · PMC7619149 · Immunity · 2026 · 8 claims · 8 setups
Reduced NMD activity (lower NMD score) predicts improved CPI response across >1,000 patients, independent of TMB or tumor type
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Phenotypic variation meets systems biology.
PMID 19664197 · PMC2745761 · Genome biology · 2009 · 8 claims · 8 setups
Cellular differentiation states are constrained by complex networks with substantial positive and negative regulation, challenging the concept of single 'master regulators'
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Low conservation and species-specific evolution of alternative splicing in humans and mice: comparative genomics analysis using well-annotated full-length cDNAs.
PMID 18838389 · PMC2582632 · Nucleic acids research · 2008 · 7 claims · 8 setups
Although 86% of individual human exons are conserved in the mouse genome, only a small fraction (431/20392, ~2%) of human AS variants are perfectly conserved AS variants in mice.
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Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.
PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups
A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.
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Single-cell immunophenotyping identifies CD8+GZMK+IFNG+ T cells as a key immune population in cutaneous Lyme disease.
PMID 41729083 · PMC12956012 · JCI insight · 2026 · 8 claims · 7 setups
A clonally expanded CD8+GZMK+IFNG+ T cell population (subdivided into IFNGhi and IFNGint groups) is enriched in the EM lesion and shows an inflammatory, tissue-resident phenotype (GZMBlo/PRF1-) resembling tissue-enriched GZMK+ TteK cells