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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Exome sequencing identifies the cause of a mendelian disorder.
PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups
Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.
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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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Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
PMID 18211709 · PMC2248204 · BMC neurology · 2008 · 6 claims · 4 setups
Pathogenic mutations in PRKN and LRRK2, but not SNCA or PINK1, are found in a Portuguese cohort of early-onset/familial PD patients
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Has reproduction · 90
The tumour suppressor L(3)mbt inhibits neuroepithelial proliferation and acts on insulator elements.
PMID 21857667 · PMC3173870 · Nature cell biology · 2011 · 8 claims · 8 setups
Brain tumors in l(3)mbt mutants originate from overproliferation of neuroepithelial cells of the optic lobes, not from defects in asymmetric cell division.
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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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Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.
PMID 19907653 · PMC2771352 · PloS one · 2009 · 8 claims · 7 setups
IL10 haplotype 1 (rs1800871, rs1800872, rs3024490, rs1554286) is associated with a pro-inflammatory ex vivo cytokine response (lower IL-10, higher TNF-alpha) relative to the population mean
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Comparative genomics of the neglected human malaria parasite Plasmodium vivax.
PMID 18843361 · PMC2651158 · Nature · 2008 · 8 claims · 8 setups
P. vivax resembles other sequenced malaria parasites (P. falciparum, P. knowlesi, P. yoelii) in gene content and metabolic potential