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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Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.
PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups
Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage
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BCoR-L1 variation and breast cancer.
PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
BCoR-L1 expression does not play a large role in predisposition to familial breast cancer
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Effects of DNA-targeted ionizing radiation produced by 5-[125I]iodo-2'-deoxyuridine on global gene expression in primary human cells.
PMID 17594496 · PMC1934370 · BMC genomics · 2007 · 8 claims · 7 setups
125I-IUdR-induced DNA damage alters expression of only a limited subset of genes in primary human cells
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Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups
The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap
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Patterns and rates of intron divergence between humans and chimpanzees.
PMID 17309804 · PMC1852421 · Genome biology · 2007 · 8 claims · 6 setups
Intron divergence (Ki) is strongly positively correlated with intron length
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Genome-scale validation of deep-sequencing libraries.
PMID 19002256 · PMC2577887 · PloS one · 2008 · 6 claims · 4 setups
Mab-seq allows a small aliquot of a ChIP-seq sequencing library to be labeled and hybridized to commercial microarrays for quality control before deep sequencing, without compromising the library for subsequent sequencing.
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Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta.
PMID 18974790 · PMC2572835 · PloS one · 2008 · 8 claims · 6 setups
The CatSper channel complex (four CatSpers plus CatSperβ) originated as early as primitive metazoans such as the Cnidarian Nematostella vectensis
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Metabolic syndrome: from epidemiology to systems biology.
PMID 18852695 · PMC2829312 · Nature reviews. Genetics · 2008 · 8 claims · 8 setups
MetSyn component traits (obesity, insulin resistance, dyslipidaemia, hypertension) exhibit causal interactions and common etiologies rather than being independent conditions
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SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access.
PMID 18847484 · PMC2576268 · BMC bioinformatics · 2008 · 7 claims · 8 setups
SPSmart is a novel tool for accessing and combining large-scale SNP genotype databases with population information
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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
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Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios.
PMID 18831757 · PMC2572624 · BMC bioinformatics · 2008 · 6 claims · 4 setups
A dye intensity bias between the two channels (X/Y, Cy5/Cy3) of the Infinium II assay remains after BeadStudio's proprietary normalization.
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Sequencing the regulatory genome.
PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups
Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Locus-specific and activity-independent gene repositioning during early tumorigenesis.
PMID 18195100 · PMC2213600 · The Journal of cell biology · 2008 · 7 claims · 6 setups
The genome undergoes global spatial reorganization during both normal and tumorigenic mammary epithelial differentiation, as shown by reduced nucleolar number.
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The Bifidobacterium dentium Bd1 genome sequence reflects its genetic adaptation to the human oral cavity.
PMID 20041198 · PMC2788695 · PLoS genetics · 2009 · 8 claims · 8 setups
The B. dentium Bd1 genome was sequenced to completion, revealing a single circular 2,636,368 bp chromosome with 2,143 predicted ORFs
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Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.
PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups
Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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Inverse symmetry in complete genomes and whole-genome inverse duplication.
PMID 19898631 · PMC2771390 · PloS one · 2009 · 8 claims · 5 setups
Reverse and complement symmetries are essentially absent in genomic sequences at all scales.
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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups
Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)