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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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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Twin peaks: the draft human genome sequence.
PMID 11276423 · PMC138909 · Genome biology · 2001 · 8 claims · 8 setups
The predicted number of human genes (~26,000-40,000) is far lower than the widely assumed ~100,000, though downstream RNA/protein complexity can still generate substantial biological complexity.
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Has reproduction · 51
Population Genomic Analyses Suggest a Hybrid Origin, Cryptic Sexuality, and Decay of Genes Regulating Seed Development for the Putatively Strictly Asexual Kingdonia uniflora (Circaeasteraceae, Ranunculales).
PMID 36674965 · PMC9866071 · International journal of molecular sciences · 2023 · 8 claims · 8 setups
K. uniflora shows high allelic heterozygosity (negative F_IS) consistent with theoretical expectations under asexual evolution
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Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?
PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups
The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term
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Human genetics branches out in Barcelona.
PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups
A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect
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Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.
PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups
MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA
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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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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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Has reproduction · 59
From tides to nucleotides: Genomic signatures of adaptation to environmental heterogeneity in barnacles.
PMID 33960035 · PMC9292448 · Molecular ecology · 2021 · 7 claims · 8 setups
382 genomic regions contain SNPs whose frequencies are consistently zonated (vary with intertidal position) across all surveyed North Atlantic habitats (Maine, Rhode Island, Norway)
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Population genomics of human gene expression.
PMID 17873874 · PMC2683249 · Nature genetics · 2007 · 8 claims · 8 setups
Gene expression levels in lymphoblastoid cell lines are a heritable trait
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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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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups
40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD
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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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Genetics of autistic disorders: review and clinical implications.
PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups
AD are predominantly genetically determined disorders with heritability of around 90%.
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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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Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals.
PMID 18803882 · PMC2566316 · BMC genomics · 2008 · 8 claims · 5 setups
About 20% of the 909,622 SNPs on the SNP Array 6.0 are monomorphic in the Japanese population
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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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Geographical genomics of human leukocyte gene expression variation in southern Morocco.
PMID 19966804 · PMC2798927 · Nature genetics · 2010 · 8 claims · 8 setups
Gene expression differs substantially between locations (up to 38% of transcripts), driven largely by a rural-versus-urban lifestyle contrast rather than ethnicity or gender.
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High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians.
PMID 19900272 · PMC3091319 · Genome biology · 2009 · 7 claims · 4 setups
Custom whole-genome scan arrays (~200 bp resolution) discover CNV regions not previously reported in the literature
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Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups
Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans