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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Integrated analysis of genetic and proteomic data identifies biomarkers associated with adverse events following smallpox vaccination.
PMID 18923431 · PMC2692715 · Genes and immunity · 2009 · 7 claims · 6 setups
A two-stage strategy (Random Forest filtering followed by decision tree modeling) can integrate categorical genetic and continuous proteomic data to identify biomarkers of AE risk
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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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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups
No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.
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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups
Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma
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Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups
The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%
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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis
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Has reproduction · 95
MetaMap: an atlas of metatranscriptomic reads in human disease-related RNA-seq data.
PMID 29901703 · PMC6025204 · GigaScience · 2018 · 6 claims · 7 setups
A two-step 'omni' RNA-seq pipeline (MetaMap) combining STAR human alignment with CLARK-S metagenomic classification can quantify archaeal, bacterial, and viral reads from the non-human read fraction of human RNA-seq data
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype