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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Comparative analysis of genome tiling array data reveals many novel primate-specific functional RNAs in human.
PMID 17288572 · PMC1796608 · BMC evolutionary biology · 2007 · 8 claims · 6 setups
Widespread transcription occurs across the human genome outside known gene annotations, and the bulk of TARs represent genuine transcripts rather than experimental artifacts
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Duplication count distributions in DNA sequences.
PMID 19256873 · PMC3121164 · Physical review. E, Statistical, nonlinear, and soft matter physics · 2008 · 8 claims · 8 setups
Duplication count distributions N(c) for complex 40-mers show power-law-like decay for c roughly 3 to 50 (or higher) across human, C. elegans, A. thaliana, and D. melanogaster genomes.
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Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection.
PMID 19109909 · PMC2630178 · Neuron · 2008 · 8 claims · 8 setups
MEF2 directly regulates a genome-wide program of 182 activity-dependent target genes in hippocampal neurons
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Prostate cancer genomics: towards a new understanding.
PMID 19104501 · PMC2721916 · Nature reviews. Genetics · 2009 · 8 claims · 8 setups
Multiple GWAS have identified over a dozen replicated germline SNPs each associated with a modest increase in prostate cancer risk
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Spinocerebellar ataxia type 23: a genetic update.
PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups
The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.
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Imputation of missing genotypes: an empirical evaluation of IMPUTE.
PMID 19077279 · PMC2636842 · BMC genetics · 2008 · 8 claims · 7 setups
IMPUTE achieves 97% median genotype imputation accuracy in Caucasian (NNC) subjects when <10% of SNPs are untyped
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Genome-wide siRNA-based functional genomics of pigmentation identifies novel genes and pathways that impact melanogenesis in human cells.
PMID 19057677 · PMC2585813 · PLoS genetics · 2008 · 7 claims · 8 setups
Genome-wide siRNA screening identified 92 novel genes that support melanin production in human melanocytes with a low false discovery rate.
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Obesity genes: so close and yet so far..
PMID 19046411 · PMC2776388 · Journal of biology · 2008 · 8 claims · 7 setups
GWA studies have confirmed only a few obesity-associated loci (INSIG2, FTO, MC4R) so far, each with modest individual effects on BMI
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Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
PMID 19043545 · PMC2581785 · PLoS genetics · 2008 · 7 claims · 4 setups
A GWA study using serum metabolomics identifies SNPs associated with metabolite concentrations, explaining up to 12% of variance for single metabolites
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Gene-environment interaction and obesity.
PMID 19019037 · PMC3683966 · Nutrition reviews · 2008 · 8 claims · 8 setups
Obesity susceptibility is largely genetically determined but requires environmental exposure (excess energy intake, low fiber, physical inactivity) to manifest phenotypically.
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu
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Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.
PMID 18989397 · PMC2565504 · PLoS computational biology · 2008 · 7 claims · 5 setups
The locations of sequence variants are correlated between paralogous human proteins more than expected by chance.
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Genetical genomics: spotlight on QTL hotspots.
PMID 18949031 · PMC2563687 · PLoS genetics · 2008 · 8 claims · 4 setups
Distant eQTL hotspots are rare and difficult to reliably verify across published genetical genomics studies
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Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.
PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups
Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype
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Genome-wide association studies in neurological disorders.
PMID 18940696 · PMC2824165 · The Lancet. Neurology · 2008 · 8 claims · 6 setups
GWAS can identify common genetic variability associated with a trait across the whole genome, avoiding the bias and low throughput of candidate-gene studies
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Identification of mitochondrial disease genes through integrative analysis of multiple datasets.
PMID 18930150 · PMC2774125 · Methods (San Diego, Calif.) · 2008 · 8 claims · 8 setups
Data integration of multiple functional genomics datasets effectively predicts mitochondrial gene function and prioritizes candidate mitochondrial disease genes.
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Metabolic syndrome: from epidemiology to systems biology.
PMID 18852695 · PMC2829312 · Nature reviews. Genetics · 2008 · 8 claims · 8 setups
MetSyn component traits (obesity, insulin resistance, dyslipidaemia, hypertension) exhibit causal interactions and common etiologies rather than being independent conditions
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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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Malaria research in the post-genomic era.
PMID 18843360 · PMC2705782 · Nature · 2008 · 8 claims · 7 setups
Genome-dependent methods can partially substitute for forward genetic approaches that are unavailable or limited in malaria parasites.
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Variations in the transcriptome of Alzheimer's disease reveal molecular networks involved in cardiovascular diseases.
PMID 18842138 · PMC2760875 · Genome biology · 2008 · 8 claims · 6 setups
AD-related genes (APOE, A2M, PON2, MAP4) and CVD-associated genes (COMT, CBS, WNK1) congregate in a single co-expression module, linking AD and CVD at the transcriptional level