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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Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.
PMID 20018283 · PMC2845297 · Atherosclerosis · 2010 · 8 claims · 7 setups
The ADIPOQ locus is the only major gene locus for plasma adiponectin, reaching genome-wide significance in combined and sex-stratified analyses
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Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups
Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans
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PLANdbAffy: probe-level annotation database for Affymetrix expression microarrays.
PMID 19906711 · PMC2808952 · Nucleic acids research · 2010 · 6 claims · 4 setups
PLANdbAffy is a database of Affymetrix probe alignments to the human genome for five widely used arrays (HG-U133A, HG-U133B, HG-U133 Plus 2.0, Human Exon 1.0, Human Gene 1.0)
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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups
Homozygous truncating mutations in PCNT cause Seckel syndrome
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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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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies.
PMID 16834767 · PMC1557740 · Breast cancer research : BCR · 2006 · 8 claims · 5 setups
Candidate polymorphism-based genetic epidemiological studies have yielded little success in identifying low-penetrance breast cancer susceptibility genes, largely due to poor genomic coverage and inadequate statistical power.
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Free energy of DNA duplex formation on short oligonucleotide microarrays.
PMID 17169993 · PMC1807971 · Nucleic acids research · 2007 · 8 claims · 6 setups
The PDNN model, originally built for DNA/RNA hybridization, can be applied to model DNA/DNA duplex formation on SNP and genome tiling arrays
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Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays.
PMID 19903341 · PMC2810663 · Genome biology · 2009 · 7 claims · 3 setups
GAP is a method for automatic detection of absolute segmental copy number and genotype status from SNP-array cancer genome profiles
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Efficacy assessment of SNP sets for genome-wide disease association studies.
PMID 17726055 · PMC2034459 · Nucleic acids research · 2007 · 6 claims · 4 setups
τ, derived from Shannon entropy and swept radius ɛ, approximates the relative sample size efficiency of a marker set for mapping a causal variant at a given map position compared to a maximally polymorphic SNP
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Iterative pruning PCA improves resolution of highly structured populations.
PMID 19930644 · PMC2790469 · BMC bioinformatics · 2009 · 7 claims · 7 setups
ipPCA is a novel algorithm that assigns individuals to subpopulations and infers the total number of subpopulations (K) present in genotypic data
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Complex genetic diseases: controversy over the Croesus code.
PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups
The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.
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A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.
PMID 15592405 · PMC2263125 · Nature · 2004 · 8 claims · 8 setups
A genetic variation map of 2.8 million SNPs was constructed for chicken by comparing 3 domestic breeds to Red Jungle Fowl
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Versatile and open software for comparing large genomes.
PMID 14759262 · PMC395750 · Genome biology · 2004 · 8 claims · 8 setups
MUMmer 3.0 efficiently handles comparisons of large eukaryotic genomes at varying evolutionary distances
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RNA-Seq transcriptome profiling of upland cotton (Gossypium hirsutum L.) root tissue under water-deficit stress.
PMID 24324815 · PMC3855774 · PloS one · 2013 · 8 claims · 8 setups
A total of 1,530 transcripts were differentially expressed between well-watered and water-deficit stressed field-grown upland cotton root tissues (913 up-regulated, 617 down-regulated).
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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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Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.
PMID 16680197 · PMC1456318 · PLoS genetics · 2006 · 7 claims · 7 setups
SNPs in the Affymetrix 100K set are undersampled from coding regions (both synonymous and nonsynonymous) and oversampled from regions outside genes, relative to HapMap SNPs
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Periodicity of SNP distribution around transcription start sites.
PMID 16579865 · PMC1448210 · BMC genomics · 2006 · 8 claims · 6 setups
SNP density around TSS shows a 146-nucleotide periodicity
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SNP@Promoter: a database of human SNPs (single nucleotide polymorphisms) within the putative promoter regions.
PMID 18315851 · PMC2259403 · BMC bioinformatics · 2008 · 8 claims · 4 setups
SNP@Promoter is a database of human SNPs within putative promoter regions and predicted transcription factor binding sites
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The meso-genomic era.
PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups
Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).