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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Association of the MAPT locus with Parkinson's disease.
PMID 19912324 · PMC3906622 · European journal of neurology · 2010 · 7 claims · 5 setups
H1/H2-tagging SNPs rs1052553 (MAPT) and rs62063857 (Saitohin/STH) are significantly associated with increased risk of PD
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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups
MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations
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A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus.
PMID 18631455 · PMC2727981 · Immunity · 2008 · 7 claims · 8 setups
Transcriptional modules constructed from coordinately expressed genes across 8 diseases form stable, biologically coherent functional units
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Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.
PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups
A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)
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MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.
PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups
MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.
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Glycomics and disease markers.
PMID 19775929 · PMC2788081 · Current opinion in chemical biology · 2009 · 8 claims · 7 setups
Over 70% of all human proteins are glycosylated
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Adaptations to climate in candidate genes for common metabolic disorders.
PMID 18282109 · PMC2242814 · PLoS genetics · 2008 · 8 claims · 7 setups
A network-based bioinformatics approach (Molecular Triangulation) was used to select 82 candidate genes belonging to the core subnetwork of metabolic syndrome phenotypes.
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A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
PMID 18194558 · PMC2248205 · BMC genetics · 2008 · 8 claims · 5 setups
A hierarchical/modular approach integrating quality control, LD, physical distance, and gene ontology identifies authentic associations among those found by statistical tests in pooled DNA GWAS
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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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Has reproduction · 53
PulmonDB: a curated lung disease gene expression database.
PMID 31949184 · PMC6965635 · Scientific reports · 2020 · 6 claims · 6 setups
PulmonDB is a curated, web-based gene expression database and R package integrating microarray and RNA-seq data for COPD and IPF with manually curated controlled-vocabulary annotation.
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Has reproduction · 77
Representing and querying disease networks using graph databases.
PMID 27462371 · PMC4960687 · BioData mining · 2016 · 7 claims · 8 setups
Graph databases are well suited for representing biological information because it is typically highly connected, semi-structured and unpredictable, unlike relational databases which require rigid schemas.