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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Human QTL linkage mapping.
PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups
Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels
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Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure.
PMID 19723536 · PMC2789866 · Neurotoxicology · 2009 · 7 claims · 3 setups
Children homozygous for the PEPT2*2 polymorphism have significantly higher blood lead levels than heterozygous or non-carrier children.
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Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.
PMID 19834011 · PMC2787844 · Stroke · 2009 · 8 claims · 5 setups
Whole-brain, subcortical, and ependymal HWM volumes are all highly heritable
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Pharmacogenomic biomarkers.
PMID 12364812 · PMC3850811 · Disease markers · 2002 · 8 claims · 8 setups
Development of a pharmacogenomic biomarker requires sequential steps: laboratory identification, retrospective confirmation in clinical samples, prospective clinical trial validation, and regulatory approval before patient stratification.
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Genetics and functional genomics of type 2 diabetes mellitus.
PMID 14659011 · PMC329413 · Genome biology · 2003 · 7 claims · 5 setups
Genome-wide transcription profiling of diabetic skeletal muscle reveals coordinated downregulation of oxidative phosphorylation genes, converging on PGC1α as a central regulator.
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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Genomic medicine and developing countries: creating a room of their own.
PMID 18487990 · PMC7096950 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups
Developing countries can harness human genetic variation to benefit their populations and economies rather than only importing technology from developed nations.
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Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups
The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups
Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair
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Has reproduction · 50
auts2 Features and Expression Are Highly Conserved during Evolution Despite Different Evolutionary Fates Following Whole Genome Duplication.
PMID 36078102 · PMC9454499 · Cells · 2022 · 8 claims · 7 setups
auts2a and auts2b originate from the teleost-specific whole genome duplication (TGD)
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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The future is genome-wide.
PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups
Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level
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Genetics and proteomics: deciphering gene association studies in critical illness.
PMID 16934133 · PMC1750993 · Critical care (London, England) · 2006 · 8 claims · 8 setups
Most critical illnesses are complex traits (multifactorial), unlike single-gene Mendelian diseases.
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Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES).
PMID 19903357 · PMC3087512 · BMC genetics · 2009 · 7 claims · 6 setups
LALES Latinos show strong evidence of recent population admixture, primarily from Native American and European ancestries with smaller Asian and African contributions.
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Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.
PMID 19842929 · PMC2923222 · Pharmacogenomics · 2009 · 8 claims · 8 setups
Approximately 15-20% of nonsynonymous variants in membrane transporters exhibit reduced function