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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Imputation-based analysis of association studies: candidate regions and quantitative traits.
PMID 17676998 · PMC1934390 · PLoS genetics · 2007 · 8 claims · 2 setups
Imputation-based Bayesian regression increases power to detect association compared with standard single-SNP tests, even when the causal variant is directly typed
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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups
Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip
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Understanding genetic epidemiologic association studies Part 1: fundamentals.
PMID 19962167 · PMC2843757 · Surgery · 2010 · 8 claims · 3 setups
Genetic epidemiology aims to establish whether a disease has a genetic component while accounting for environmental influences.
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Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups
None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)
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Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.
PMID 17900373 · PMC2082241 · BMC dermatology · 2007 · 8 claims · 4 setups
This is the first SNP-based genome-wide linkage study of atopic dermatitis performed in an Asian population.
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.
PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups
SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied
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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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Helicobacter pylori: after the genomes, back to biology.
PMID 12668641 · PMC2193897 · The Journal of experimental medicine · 2003 · 8 claims · 5 setups
STM screening of 960 H. pylori mutants in gerbils identifies genes required for in vivo colonization
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.
PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups
Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.
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Vespucci: a system for building annotated databases of nascent transcripts.
PMID 24304890 · PMC3936758 · Nucleic acids research · 2014 · 8 claims · 7 setups
Existing ChIP-seq and RNA-seq analysis platforms (e.g. Cufflinks, peak callers) are unsuited to GRO-seq because they assume spliced/exonic reads, uniform density and paired-end data, and cannot identify transcriptional units de novo across the whole genome.