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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Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.
PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups
Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position
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SVC: structured visualization of evolutionary sequence conservation.
PMID 15991338 · PMC1160265 · Nucleic acids research · 2005 · 7 claims · 5 setups
SVC aligns protein-coding sequences of orthologous gene pairs and maps them back onto their encoding exons/introns to generate a scaffold of conserved gene structure.
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Human and mouse introns are linked to the same processes and functions through each genome's most frequent non-conserved motifs.
PMID 18450818 · PMC2425492 · Nucleic acids research · 2008 · 8 claims · 5 setups
Pyknons (recurrent, genome-specific, ≥16nt motifs with ≥30 intact intergenic/intronic copies and ≥1 exonic copy) span a substantial fraction of previously uncharacterized intronic space (7.4% human, 4.4% mouse)
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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Mutations in NYX of individuals with high myopia, but without night blindness.
PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups
Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.
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AceView: a comprehensive cDNA-supported gene and transcripts annotation.
PMID 16925834 · PMC1810549 · Genome biology · 2006 · 8 claims · 4 setups
At the mRNA level, AceView transcripts are the closest match to Gencode transcripts among all evaluated methods, including alternative splice variants
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Visualizing the genome: techniques for presenting human genome data and annotations.
PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups
Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation
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Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.
PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups
SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied
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A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
PMID 18618005 · PMC2447816 · Molecular vision · 2008 · 6 claims · 4 setups
A heterozygous c.327C>A transversion in exon 3 of CRYGC causes a nonsense mutation (C109X) that cosegregates with autosomal dominant congenital nuclear cataract in a Chinese family.
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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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Molecular evolution of Cide family proteins: novel domain formation in early vertebrates and the subsequent divergence.
PMID 18500987 · PMC2426694 · BMC evolutionary biology · 2008 · 8 claims · 5 setups
Sequences homologous to the CIDE-N domain/NCD show a wide phylogenetic distribution, from hydra and sea anemone to mammals, while true Cide proteins are restricted to vertebrates.
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Has reproduction · 94
A Deluge of Complex Repeats: The Solanum Genome.
PMID 26241045 · PMC4524691 · PloS one · 2015 · 8 claims · 7 setups
~50–60% of the S. tuberosum and S. lycopersicum genomes are composed of repetitive elements
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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.