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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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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Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.
PMID 18535014 · PMC2464741 · Molecular biology and evolution · 2008 · 8 claims · 7 setups
Repair genes are numerically less common than apoptosis genes in the genomes of multicellular organisms
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The repertoire of G protein-coupled receptors in the sea squirt Ciona intestinalis.
PMID 18452600 · PMC2396169 · BMC evolutionary biology · 2008 · 8 claims · 5 setups
169 gene products in the Ciona genome were identified as putative GPCRs
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups
Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome
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PIK3CA-activating mutations and chemotherapy sensitivity in stage II-III breast cancer.
PMID 18371219 · PMC2397526 · Breast cancer research : BCR · 2008 · 7 claims · 4 setups
PIK3CA mutations are not associated with altered sensitivity to preoperative anthracycline-based or taxane-based chemotherapy in ER-positive and ER-negative breast tumors
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A sequence-based survey of the complex structural organization of tumor genomes.
PMID 18364049 · PMC2397511 · Genome biology · 2008 · 8 claims · 6 setups
End sequencing profiling (ESP) can identify all classes of genome rearrangements in tumor genomes by paired-end sequencing of BAC clones
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Genomic activation of the EGFR and HER2-neu genes in a significant proportion of invasive epithelial ovarian cancers.
PMID 18182111 · PMC2266762 · BMC cancer · 2008 · 8 claims · 4 setups
No somatic mutations were found in the entire tyrosine kinase domain (exons 18-24) of EGFR or HER2-neu in 68 tissue samples from 52 ovarian cancer patients.
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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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Analysis of recent segmental duplications in the bovine genome.
PMID 19951423 · PMC2796684 · BMC genomics · 2009 · 8 claims · 6 setups
Recently duplicated sequence (≥1 kb, ≥90% identity) comprises 3.11% (94.4 Mb) of the bovine genome assembly (Btau_4.0)
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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A genomic approach to improve prognosis and predict therapeutic response in chronic lymphocytic leukemia.
PMID 19861443 · PMC2783430 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups
A genomic signature derived from CLL patient leukemic cells significantly differentiates stable from progressive disease
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Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.
PMID 19812598 · PMC2825112 · The Journal of investigative dermatology · 2010 · 8 claims · 5 setups
EGFR is activated by somatic mutation in a small subset of cutaneous SCC
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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The potential of optical proteomic technologies to individualize prognosis and guide rational treatment for cancer patients.
PMID 19756916 · PMC2778706 · Targeted oncology · 2009 · 8 claims · 5 setups
Genomic/gene expression profiling alone is insufficient to identify tumors with molecular pathway changes predictive of treatment outcome; protein-level functional assessment (activation states, PTMs, interactions) is also required
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Personalized copy number and segmental duplication maps using next-generation sequencing.
PMID 19718026 · PMC2875196 · Nature genetics · 2009 · 5 claims · 5 setups
mrFAST maps short reads to all possible locations in the reference genome, enabling read-depth-based prediction of absolute copy number in both unique and duplicated sequence, including discrimination between highly identical gene paralogs.
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An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.
PMID 19925645 · PMC2791104 · BMC bioinformatics · 2009 · 7 claims · 3 setups
The loop design compares three patients pairwise across three hybridizations instead of each patient against a normal reference, using all arrays for informative test samples and avoiding ambiguity from benign CNVs in a reference sample.
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Has reproduction · 88
nf-core/isoseq: simple gene and isoform annotation with PacBio Iso-Seq long-read sequencing.
PMID 36961337 · PMC10199315 · Bioinformatics (Oxford, England) · 2023 · 7 claims · 4 setups
nf-core/isoseq is a new automated Nextflow-based pipeline that processes raw Iso-Seq subreads through to genome annotation (BED format) without requiring transcriptome assembly.
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Genomics meets nanoscience: probing genes and the cell nucleus at 10-9 meters.
PMID 11897022 · PMC139022 · Genome biology · 2002 · 8 claims · 8 setups
Trans-splicing generates cell-specific protocadherin mRNAs in human neurons
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Has reproduction · 93
Firefly genomes illuminate parallel origins of bioluminescence in beetles.
PMID 30324905 · PMC6191289 · eLife · 2018 · 7 claims · 8 setups
Bioluminescence arose independently (parallel/convergent origins) in fireflies and click beetles rather than from a single common ancestral origin.