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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A third approach to gene prediction suggests thousands of additional human transcribed regions.
PMID 16543943 · PMC1391917 · PLoS computational biology · 2006 · 8 claims · 7 setups
A third basic concept for gene prediction exists, based on detecting strand-specific 'transcription footprints' (mutational and selectional biases) rather than gene structure or sequence similarity.
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Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.
PMID 16469101 · PMC1457002 · BMC evolutionary biology · 2006 · 7 claims · 5 setups
The NANOG gene and all pseudogenes except NANOGP8 occupy orthologous chromosomal positions in the chimpanzee genome, indicating they originated before the human-chimpanzee divergence.
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Multilocus analysis of SNP and metabolic data within a given pathway.
PMID 16412218 · PMC1382210 · BMC genomics · 2006 · 8 claims · 7 setups
The combinatorial partitioning method (CPM) with optimal thresholds can identify SNPs associated with quantitative metabolite levels rather than only categorical traits.
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups
ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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Fast-evolving noncoding sequences in the human genome.
PMID 17578567 · PMC2394770 · Genome biology · 2007 · 8 claims · 6 setups
1,356 conserved noncoding sequences show human-specific accelerated substitution rates (ANC sequences) relative to chimpanzee
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Melanesian mtDNA complexity.
PMID 17327912 · PMC1803017 · PloS one · 2007 · 8 claims · 5 setups
Among-group mtDNA variation in Northern Island Melanesia is structured by island, island size, and language affiliation.
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The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile.
PMID 19105833 · PMC2626571 · BMC cardiovascular disorders · 2008 · 7 claims · 4 setups
T-allele carriers of the CYP2J2 G-50T polymorphism had significantly more myocardial infarctions than G/G carriers in univariate analysis (21.6% vs 13.7%, p=0.026)
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Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.
PMID 19099557 · PMC2630295 · Cardiovascular ultrasound · 2008 · 8 claims · 4 setups
HCM and about 50% of idiopathic DCM are familial diseases with an autosomal dominant pattern of inheritance
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Considerations regarding the genetics of obesity.
PMID 19037210 · PMC2682366 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Genetic factors account for 40-70% of the variance in human adiposity
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Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.
PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups
SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans
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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups
Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.
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Proteomic profiling of urine identifies specific fragments of SERPINA1 and albumin as biomarkers of preeclampsia.
PMID 18984079 · PMC2679897 · American journal of obstetrics and gynecology · 2008 · 8 claims · 7 setups
Women with severe preeclampsia present a unique urinary proteomic fingerprint distinguishable from controls.
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A role for the p53 pathway in the pathology of meningiomas with NF2 loss.
PMID 18974932 · PMC2692701 · Journal of neuro-oncology · 2009 · 7 claims · 4 setups
The Pro72 allele of p53 codon 72 was not selected for in the meningioma cohort, and its distribution did not differ from control populations, indicating no role in meningioma initiation.
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Nutritional genomics, polyphenols, diets, and their impact on dietetics.
PMID 18954579 · PMC2692306 · Journal of the American Dietetic Association · 2008 · 8 claims · 8 setups
Nutrient-gene interactions, exemplified by the MTHFR C677T polymorphism, modulate individual metabolic responses (e.g., homocysteine metabolism) and can be offset by adjusting nutrient intake such as folate
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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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Biomarker discovery in neurodegenerative diseases: a proteomic approach.
PMID 18938247 · PMC2939006 · Neurobiology of disease · 2009 · 6 claims · 8 setups
Proteomic profiling of CSF and plasma can identify candidate protein biomarkers that distinguish AD patients from controls with high sensitivity and specificity
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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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Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.