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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Tipping the balance in autoimmune disease.
PMID 18001485 · PMC2246277 · Genome biology · 2007 · 8 claims · 8 setups
Human autoimmune diseases are fundamentally diseases of immune dysfunction, evidenced by predisposing genes being immune-function genes, some shared and some unique across MS, T1D, SLE, CD and RA
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Can we find the genes involved in complex traits?
PMID 15461809 · PMC545590 · Genome biology · 2004 · 8 claims · 8 setups
Large regions of the mouse genome exist in linkage disequilibrium (LD), including a 40 Mb region on the X chromosome, reflecting selection against recombination to preserve allelic combinations.
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6th annual meeting of the Complex Trait Consortium.
PMID 17906895 · PMC2042027 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 8 claims · 7 setups
The NIEHS Perlegen/resequencing project has generated over 8.5 million SNPs from 15 inbred mouse strains but shows a high false-negative discovery rate, with an estimated 45 million SNPs actually present.
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Has reproduction · 63
Genetic analysis of Leishmania donovani tropism using a naturally attenuated cutaneous strain.
PMID 24992200 · PMC4081786 · PLoS pathogens · 2014 · 8 claims · 8 setups
The CL-SL L. donovani isolate is severely attenuated for survival in visceral organs (liver, spleen) of BALB/c mice compared with the VL-SL isolate, while inducing transient footpad swelling that VL-SL does not.
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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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Novel integrative genomics strategies to identify genes for complex traits.
PMID 16886998 · PMC2367618 · Animal genetics · 2006 · 8 claims · 7 setups
Forward genetics is restricted to genes harboring mutations, systematically missing network genes that causally influence disease without themselves being mutated.
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Genomic views of distant-acting enhancers.
PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups
Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.
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Multiple functions of precursor BDNF to CNS neurons: negative regulation of neurite growth, spine formation and cell survival.
PMID 19674479 · PMC2743674 · Molecular brain · 2009 · 7 claims · 8 setups
R125M, R127L, and R125M/R127L BDNF SNP variants are poorly cleaved, resulting in predominant secretion of proBDNF (CR-proBDNF)
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Methods for genome-wide analysis of DNA methylation in intestinal tumors.
PMID 19854208 · PMC2891386 · Mutation research · 2010 · 8 claims · 8 setups
Aberrant DNA methylation, including CpG island hypermethylation of tumor suppressors and genome-wide hypomethylation, is strongly linked to the origin and progression of colorectal cancer.
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Environmental genome project: a positive sequence of events.
PMID 11171540 · PMC1242069 · Environmental health perspectives · 2001 · 8 claims · 5 setups
Exposure to alkylating agents evokes at least threefold expression changes in about one-third of the yeast genome (~2,000 genes), far beyond DNA repair genes alone
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In silico discovery of gene-coding variants in murine quantitative trait loci using strain-specific genome sequence databases.
PMID 12537567 · PMC151180 · Genome biology · 2002 · 6 claims · 4 setups
Strain-specific mouse genome sequence databases can be used in a high-throughput in silico pipeline to discover gene-coding variants within murine QTLs, without de novo sequencing.
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Gene losses during human origins.
PMID 16464126 · PMC1361800 · PLoS biology · 2006 · 7 claims · 7 setups
A comparative genomic screen identified 67 new human-specific nonprocessed pseudogenes, bringing the total (with 13 from prior literature) to 80 human-specific pseudogenes.
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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.
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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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A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data.
PMID 19923232 · PMC2817484 · Nucleic acids research · 2010 · 8 claims · 7 setups
A Perl-based pipeline that BLASTs/BLATs Illumina probe sequences against genomes and transcript databases (RefSeq, UCSC Known Genes, UniGene/GenBank, Ensembl) can classify probes by quality grade (Perfect/Good/Bad/No match) and is applicable across 8 BeadArray platforms and other array types
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A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.
PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups
Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression
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Report on the Molecular Approaches to Osteoarthritis Symposium, Imperial College London, UK, 18-20 April 2004.
PMID 15380034 · PMC546282 · Arthritis research & therapy · 2004 · 8 claims · 8 setups
OA cartilage and synovium show an 'IL-1 signature' of upregulated inflammatory cytokines/chemokines, with peripheral blood leukocytes possibly activated by trafficking through affected joints
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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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G2Cdb: the Genes to Cognition database.
PMID 18984621 · PMC2686544 · Nucleic acids research · 2009 · 7 claims · 7 setups
G2Cdb integrates experimentally validated synapse proteome datasets with mouse/human genomic annotation, phenotype, and human disease data in a gene-centric database.