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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Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.
PMID 16512914 · PMC1413517 · BMC medical genetics · 2006 · 8 claims · 5 setups
Patient carries a novel 2.3 Mb deletion in 22q11.2 with proximal breakpoint between RH48663/RH48348 and distal breakpoint between D22S1138/SHGC-145314
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Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates.
PMID 19906729 · PMC2808989 · Nucleic acids research · 2010 · 8 claims · 6 setups
Patrocles is a database compiling DSPs predicted to perturb miRNA-mediated gene regulation across seven vertebrate species, covering targets, miRNA precursors and silencing machinery.
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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 · 50
Comparative analysis of circular RNAs between soybean cytoplasmic male-sterile line NJCMS1A and its maintainer NJCMS1B by high-throughput sequencing.
PMID 30208848 · PMC6134632 · BMC genomics · 2018 · 8 claims · 7 setups
2867 circRNAs were identified in soybean flower buds via high-throughput sequencing with RNase R enrichment, of which 1009 were differentially expressed between NJCMS1A and NJCMS1B
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Tri-nucleotide threading for parallel amplification of minute amounts of genomic DNA.
PMID 16582098 · PMC1421508 · Nucleic acids research · 2006 · 6 claims · 5 setups
TnT enables parallel amplification of 75 SNPs from sub-nanogram amounts of genomic DNA
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups
Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.
PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups
151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations
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Genetic variation in PARL influences mitochondrial content.
PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups
PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis
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Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.
PMID 19844207 · PMC2797562 · Molecular psychiatry · 2010 · 8 claims · 7 setups
rs1344706 in ZNF804A is associated with schizophrenia in the Irish ICCSS sample, replicating the original Cardiff finding
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The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample.
PMID 19800201 · PMC2783814 · Schizophrenia research · 2009 · 8 claims · 7 setups
Common alleles at DTNBP1 SNPs, particularly rs760761, are associated with schizophrenia in the ICCSS sample