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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Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
PMID 16595073 · PMC3500178 · Human genomics · 2006 · 7 claims · 5 setups
A bioinformatics strategy cross-referencing carcinogenesis-related gene lists with breast-tissue expression data can identify candidate breast cancer risk nsSNPs.
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Prevalence of the congenital long-QT syndrome.
PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups
The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)
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Target SNP selection in complex disease association studies.
PMID 15248903 · PMC487897 · BMC bioinformatics · 2004 · 7 claims · 3 setups
A computational pipeline can retrieve gene sequence, collect SNP variation data, and annotate SNPs falling in functional motifs (promoter, exon-intron structure, AU-rich elements, TF binding sites, splice sites) with expression in target tissue
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Glucosidase-beta variations and Lewy body disorders.
PMID 18829375 · PMC2970615 · Parkinsonism & related disorders · 2009 · 8 claims · 1 setups
GBA pathogenic mutations were found in 3% of LBD cases versus 1% of controls, a non-significant difference (OR 3.0, 95% CI 0.3–29, p=0.3)
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Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.
PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups
Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded
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Gene-centric characteristics of genome-wide association studies.
PMID 18060058 · PMC2092383 · PloS one · 2007 · 8 claims · 5 setups
High-density SNP chips using either direct or indirect selection approaches provide very high coverage in genic regions and capture most known common disease variants under the HapMap framework.
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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
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Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.
PMID 16277675 · PMC1297570 · Arthritis research & therapy · 2005 · 8 claims · 6 setups
The TNF-RII T676G polymorphism is associated with circulating levels of sTNF-RI and sTNF-RII in RA, with a trend TT > TG > GG
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Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.
PMID 16684361 · PMC1488846 · BMC genomics · 2006 · 8 claims · 5 setups
The coding region of MRP1 shows evidence of negative selection or recent population expansion based on nucleotide diversity statistics
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Has reproduction · 66
Integrative bioinformatics and artificial intelligence analyses of transcriptomics data identified genes associated with major depressive disorders including NRG1.
PMID 37583471 · PMC10423927 · Neurobiology of stress · 2023 · 7 claims · 5 setups
Differentially expressed genes in MDD patients are enriched in immune response, inflammatory response, neurodegeneration, and cerebellar atrophy pathways.