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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SNPs in cancer research and treatment.
PMID 14970847 · PMC2410167 · British journal of cancer · 2004 · 8 claims · 8 setups
SNPs and haplotype-tagging SNPs (ht-SNPs) provide a resource for investigating genetic contributions to cancer susceptibility and outcome while reducing genotyping burden versus testing every SNP
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Identification of disease causing loci using an array-based genotyping approach on pooled DNA.
PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups
Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping
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Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI).
PMID 16141191 · PMC1197137 · Nucleic acids research · 2005 · 8 claims · 6 setups
A novel 'bioluminometric assay coupled with terminator (ddNTP) incorporation' (BATI) platform was developed for multiplex SNP typing in a single reaction chamber.
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An efficient method for multi-locus molecular haplotyping.
PMID 17158153 · PMC1802573 · Nucleic acids research · 2007 · 7 claims · 6 setups
A novel molecular haplotyping method using limiting dilution, aliquot pre-screening, and tiling reconstruction can resolve haplotypes spanning many loci over long distances from a single individual's DNA.
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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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Pooled DNA genotyping on Affymetrix SNP genotyping arrays.
PMID 16480507 · PMC1382214 · BMC genomics · 2006 · 7 claims · 4 setups
Pooled genotyping on Affymetrix 10K arrays estimates allele frequency differences between pools with accuracy comparable to lower-throughput pooling platforms.
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A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays.
PMID 17996079 · PMC2206057 · BMC bioinformatics · 2007 · 8 claims · 7 setups
An HMM using paired germline genotype calls and tumour allelic SNP intensities can estimate allele-specific copy-numbers, distinguishing events like uniparental disomy from allelic imbalance.
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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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BioHealthBase: informatics support in the elucidation of influenza virus host pathogen interactions and virulence.
PMID 17965094 · PMC2238987 · Nucleic acids research · 2008 · 7 claims · 5 setups
BioHealthBase BRC is a public integrated bioinformatics database and analysis resource for influenza virus, Francisella tularensis, Mycobacterium tuberculosis, Microsporidia species and ricin toxin.
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A response to Yu et al. "A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array", BMC Bioinformatics 2007, 8: 145.
PMID 17939873 · PMC2222656 · BMC bioinformatics · 2007 · 8 claims · 4 setups
Yu et al.'s original comparison ran RJaCGH's MCMC sampler for a severely insufficient number of iterations (50 burn-in, 500 total)
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Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?
PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups
A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU
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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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The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.
PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups
The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.
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Relative impact of nucleotide and copy number variation on gene expression phenotypes.
PMID 17289997 · PMC2665772 · Science (New York, N.Y.) · 2007 · 8 claims · 5 setups
SNPs and CNVs capture largely non-overlapping signals of genetic variation affecting gene expression
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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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Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
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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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Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.
PMID 18778477 · PMC2553089 · BMC medicine · 2008 · 7 claims · 7 setups
A custom BOAC SNP panel of 3404 SNPs in 983 genes was developed using the Affymetrix GeneChip Targeted Genotyping Platform, focused on non-synonymous coding SNPs and regulatory-region SNPs in candidate genes.
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Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.
PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups
A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.
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DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups
Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population