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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F-SNP: computationally predicted functional SNPs for disease association studies.
PMID 17986460 · PMC2238878 · Nucleic acids research · 2008 · 6 claims · 8 setups
F-SNP is a database integrating functional effect predictions for SNPs from 16 bioinformatics tools/databases across four categories: splicing, transcription, translation, and post-translation
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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SNP-VISTA: an interactive SNP visualization tool.
PMID 16336665 · PMC1325058 · BMC bioinformatics · 2005 · 7 claims · 3 setups
SNP-VISTA is an interactive Java-based visualization tool with two versions, GeneSNP-VISTA and EcoSNP-VISTA, for exploring large-scale SNP datasets
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Ultraconserved coding regions outside the homeobox of mammalian Hox genes.
PMID 18816392 · PMC2566984 · BMC evolutionary biology · 2008 · 7 claims · 7 setups
Ultraconserved coding regions (UCRs, ≥120 nt with no synonymous or nonsynonymous substitutions) exist outside the homeobox in mammalian Hox genes
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Multiple whole genome alignments and novel biomedical applications at the VISTA portal.
PMID 17488840 · PMC1933192 · Nucleic acids research · 2007 · 8 claims · 4 setups
A novel multiple whole-genome alignment algorithm treats all genomes symmetrically, avoiding dependence on a single base/reference genome
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High-throughput sequencing provides insights into genome variation and evolution in Salmonella Typhi.
PMID 18660809 · PMC2652037 · Nature genetics · 2008 · 7 claims · 8 setups
Evolution in the Typhi population is characterized by ongoing loss of gene function (pseudogene accumulation) rather than gain of function or diversifying selection.
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QuickSNP: an automated web server for selection of tagSNPs.
PMID 17517769 · PMC1933212 · Nucleic acids research · 2007 · 7 claims · 3 setups
QuickSNP is a freely available automated web server for selecting tagSNPs from a chromosomal region, genes within a region, or a specified gene list, with a gene-centric selection option
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An optimized procedure for the design and evaluation of Ecotilling assays.
PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups
An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays
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Natural selection of protein structural and functional properties: a single nucleotide polymorphism perspective.
PMID 18397526 · PMC2643940 · Genome biology · 2008 · 8 claims · 8 setups
The SNP A/S ratio is a robust measure of selective constraint, correlating with interspecies Ka/Ks ratios and with protein sequence conservation.
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups
IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria
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Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.
PMID 18270580 · PMC2217631 · PloS one · 2008 · 8 claims · 6 setups
Pairs of unlinked SNPs showing excess genetic differentiation (LD in mouse RILs, Fst in human populations) beyond what simulations/coalescent models predict by chance represent candidate functionally interacting (epistatic) gene pairs.
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Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.
PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups
Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes
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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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Distribution and effects of nonsense polymorphisms in human genes.
PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups
Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.
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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.
PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups
Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing
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Gene-centric characteristics of genome-wide association studies.
PMID 18060058 · PMC2092383 · PloS one · 2007 · 8 claims · 5 setups
High-density SNP chips using either direct or indirect selection approaches provide very high coverage in genic regions and capture most known common disease variants under the HapMap framework.
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An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.
PMID 19091018 · PMC2638159 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Existing SNP/disease databases are fragmented; no combined resource widely supports gene-, SNP-, and disease-related information together
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Molecular evolution and multilocus sequence typing of 145 strains of SARS-CoV.
PMID 16112670 · PMC7118731 · FEBS letters · 2005 · 8 claims · 7 setups
145 SARS-CoV genomes can be divided into three groups: animal-origin viruses, first-epidemic clinical viruses, and GD03T0013
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Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups
None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)
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The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.
PMID 19924287 · PMC2773936 · PloS one · 2009 · 8 claims · 8 setups
Human TLR genes are unequally polymorphic: TLR2, 4, 7, 8 and 9 are comparatively least diverse, whereas TLR1, 5, 6 and 10 show substantial allelic diversity.