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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Improving the specificity of exon prediction using comparative genomics.
PMID 18831778 · PMC2559877 · BMC genomics · 2008 · 8 claims · 6 setups
A log-odds ratio scoring method based on codon conservation across human-mouse/human-dog alignments and adjacent-codon dependency can classify putative exons as coding vs non-coding.
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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups
The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder
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In silico comparative genomic analysis of GABAA receptor transcriptional regulation.
PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups
Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes
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Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups
All 18 studied VP patients harbored PPOX gene mutations in heterozygous state
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Finding signals that regulate alternative splicing in the post-genomic era.
PMID 12429065 · PMC244920 · Genome biology · 2002 · 8 claims · 8 setups
Alternative splicing generates protein and regulatory diversity from a limited number of genes and modulates isoform levels in a cell-context-specific manner
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
PMID 15608249 · PMC539965 · Nucleic acids research · 2005 · 5 claims · 8 setups
Comparative human-mouse genome analysis identifies conserved sequence tags (CSTs, >=70% identity over >=100bp) that frequently correspond to non-coding elements with putative regulatory or structural roles
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GENCODE: producing a reference annotation for ENCODE.
PMID 16925838 · PMC1810553 · Genome biology · 2006 · 8 claims · 8 setups
GENCODE annotation combines initial manual annotation by HAVANA, experimental validation, and refinement based on results to identify protein-coding genes in ENCODE regions
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Expansion of the Bactericidal/Permeability Increasing-like (BPI-like) protein locus in cattle.
PMID 17362520 · PMC1839098 · BMC genomics · 2007 · 8 claims · 8 setups
The bovine BPI-like locus spans 470 kbp and contains 14 contiguous genes (13 intact + 1 pseudogene); 9 are orthologous to human/mouse BPI-like genes and 4 (named BSP30A, BSP30B, BSP30C, BSP30D) arose through cattle-specific duplication of the PSP gene
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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups
Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands
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Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs.
PMID 12783626 · PMC161800 · BMC genomics · 2003 · 8 claims · 5 setups
A comparative genomics approach using hamster testis cDNA sequencing can identify genes not previously annotated in the human, mouse, rat and Fugu genomes
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Has reproduction · 66
RNAseq analysis of the parasitic nematode Strongyloides stercoralis reveals divergent regulation of canonical dauer pathways.
PMID 23145190 · PMC3493385 · PLoS neglected tropical diseases · 2012 · 8 claims · 8 setups
S. stercoralis possesses homologs of nearly all C. elegans dauer genes, but with significant differences in protein structure, developmental regulation, and gene family expansion.
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Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.
PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups
DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue
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Has reproduction · 69
A comparison across non-model animals suggests an optimal sequencing depth for de novo transcriptome assembly.
PMID 23496952 · PMC3655071 · BMC genomics · 2013 · 8 claims · 8 setups
Representative de novo transcriptome assemblies are generated with as few as ~20 million reads for single-tissue samples and ~30 million reads for whole animals at the mRNA-coverage level.
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Systematic identification of pseudogenes through whole genome expression evidence profiling.
PMID 16945953 · PMC1636364 · Nucleic acids research · 2006 · 8 claims · 8 setups
Developed a novel bioinformatics method that identifies pseudogenes by profiling whole-genome transcript and protein expression evidence
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Comparative analysis of plant genomes allows the definition of the "Phytolongins": a novel non-SNARE longin domain protein family.
PMID 19889231 · PMC2779197 · BMC genomics · 2009 · 8 claims · 6 setups
A novel, plant-specific family of longin-related proteins, the 'Phytolongins', was identified in land plant genomes.