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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Managing incidental findings in human subjects research: analysis and recommendations.
PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups
Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.
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The genetics of regulatory variation in the human genome.
PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups
Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.
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Comparative analysis reveals signatures of differentiation amid genomic polymorphism in Lake Malawi cichlids.
PMID 18616806 · PMC2530870 · Genome biology · 2008 · 8 claims · 8 setups
Lake Malawi cichlids are phenotypically and behaviorally diverse but appear genetically like a single subdivided population rather than distinct species
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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Genetics of bipolar disorder.
PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups
BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations
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Human genomic variation.
PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups
Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races
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Genomics and biology come together to fight HIV.
PMID 18366259 · PMC2270331 · PLoS biology · 2008 · 8 claims · 6 setups
Genome-wide association studies have identified ~100 genetic polymorphisms robustly (genome-wide significant) linked to common human traits/diseases, but the biological mechanisms behind most remain unknown.
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Needles in the haystack: identifying individuals present in pooled genomic data.
PMID 19798441 · PMC2747273 · PLoS genetics · 2009 · 8 claims · 7 setups
The distribution of T for null samples (individuals not in F or G) deviates strongly from the assumed standard normal, in both location and width.
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing
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Has reproduction · 84
Strong population differentiation in lingcod (Ophiodon elongatus) is driven by a small portion of the genome.
PMID 33294007 · PMC7691466 · Evolutionary applications · 2020 · 7 claims · 8 setups
Lingcod comprise two distinct genetic clusters separated latitudinally at a break near Point Reyes off Northern California, with a high frequency of admixed individuals near the break.
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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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Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.
PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups
NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.
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Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.
PMID 18212765 · PMC7116808 · Nature clinical practice. Endocrinology & metabolism · 2008 · 8 claims · 8 setups
Six high-density genome-wide association studies in over 19,000 individuals identified approximately ten T2D-susceptibility loci, including HHEX, IDE, SLC30A8, FTO, CDKAL1, CDKN2A/CDKN2B, and IGF2BP2.
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Nursing advocacy in a postgenomic age.
PMID 19850180 · PMC2766592 · The Nursing clinics of North America · 2009 · 8 claims · 3 setups
Nurses need genetics/genomics competency (knowledge, reasoning, and action) to be effective patient advocates in the post-genomic era
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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Has reproduction · 64
Genetic introgression from commercial European pigs to the indigenous Chinese Lijiang breed and associated changes in phenotypes.
PMID 38566006 · PMC10985947 · Genetics, selection, evolution : GSE · 2024 · 7 claims · 7 setups
Significant genetic introgression from commercial European pigs (EP) into the Lijiang pig (LJP) and other domestic Chinese pig breeds was detected.
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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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Genotype differences in cognitive functioning in Noonan syndrome.
PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups
Genotype differences account for some of the variation in cognitive ability in Noonan syndrome
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Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.
PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups
The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)
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Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups
TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11