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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Gene expression and isoform variation analysis using Affymetrix Exon Arrays.
PMID 18990248 · PMC2585104 · BMC genomics · 2008 · 8 claims · 7 setups
The Exon Array performs comparably to 3'-targeted platforms (Illumina, U133) at the gene expression level, though interplatform correlation is slightly lower than between the two 3' platforms.
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Identifying alternative hyper-splicing signatures in MG-thymoma by exon arrays.
PMID 18545673 · PMC2409220 · PloS one · 2008 · 8 claims · 6 setups
An integrative ad-hoc functional GO analysis combining threshold-based (Fisher exact/hypergeometric) and threshold-free (Kolmogorov-Smirnov) statistics, plus term-to-parent comparisons, detects disease-relevant splicing events from exon array data.
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Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.
PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups
A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals
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Has reproduction · 68
LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.
PMID 24709818 · PMC4079972 · Genome research · 2014 · 8 claims · 8 setups
LaSSO (Lariat Sequence Site Origin) identifies intronic lariat reads and pinpoints branch points genome-wide from RNA-seq data by considering every intronic base as a potential branch point and including all possible exon-skipping lariats.
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A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.
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Has reproduction · 48
Rbfox2 controls autoregulation in RNA-binding protein networks.
PMID 24637117 · PMC3967051 · Genes & development · 2014 · 8 claims · 8 setups
Rbfox2 cross-regulates AS-NMD events within RNA-binding protein genes to alter their expression, tuning autoregulatory splicing networks and placing Rbfox2 at a critical node of a multilayer regulatory network.
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Has reproduction · 58
Revised annotations, sex-biased expression, and lineage-specific genes in the Drosophila melanogaster group.
PMID 25273863 · PMC4267930 · G3 (Bethesda, Md.) · 2014 · 8 claims · 6 setups
Revised RNA-seq-based gene models for D. ananassae, D. yakuba, and D. simulans include UTRs, empirically verified intron-exon boundaries, and previously unannotated novel exons, improving on r1.3 comparative-genomics annotations that lack UTRs.
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Has reproduction · 63
Target identification for repurposed drugs active against SARS-CoV-2 via high-throughput inverse docking.
PMID 34825285 · PMC8616721 · Journal of computer-aided molecular design · 2022 · 8 claims · 6 setups
Combining Vinardo, Ledock, and Korp-PL scoring functions (via averaged Z-scores) improves correct target identification over any single scoring function.
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Identification and evolutionary analysis of novel exons and alternative splicing events using cross-species EST-to-genome comparisons in human, mouse and rat.
PMID 16536879 · PMC1479377 · BMC bioinformatics · 2006 · 8 claims · 6 setups
ENACE, a cross-species EST-to-genome comparison algorithm, can identify novel cassette-on exons and retained introns for EST-scanty species and distinguish conserved vs lineage-specific exons
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Distribution and effects of nonsense polymorphisms in human genes.
PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups
Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls