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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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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SNPAnalyzer: a web-based integrated workbench for single-nucleotide polymorphism analysis.
PMID 15980517 · PMC1160189 · Nucleic acids research · 2005 · 8 claims · 4 setups
SNPAnalyzer is an integrated web-based workbench that performs four statistical SNP analyses (Hardy-Weinberg equilibrium, haplotype estimation, linkage disequilibrium, and QTL analysis) in one common computational environment.
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population.
PMID 16904005 · PMC1779589 · Genome biology · 2006 · 8 claims · 7 setups
Eight SNPs with extreme European-branch locus-specific branch length (LSBL) were selected from a genome-wide FST dataset as candidates for selection in Europe.
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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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Patterns of evolutionary constraints on genes in humans.
PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups
BaseDiver, a novel framework integrating GERP score and derived allele frequency (DAF) at nonsynonymous coding SNPs, can classify GO functional categories by patterns of evolutionary constraint
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Variation resources at UC Santa Cruz.
PMID 17151077 · PMC1781230 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser variation resources integrate polymorphism data from public collections (dbSNP, HapMap, Affymetrix, Perlegen, SeattleSNPs) into a common format with additional annotations and genomic context.
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The UCSC genome browser database: update 2007.
PMID 17142222 · PMC1669757 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser Database provides sequence and annotation data for 13 vertebrate and 19 invertebrate species as of September 2006.
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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