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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Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.
PMID 19116668 · PMC2605564 · PloS one · 2008 · 7 claims · 6 setups
ASE is more robust than total gene expression approaches to environmental variation and trans-acting genetic factors, giving a cleaner representation of cis-acting effects.
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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups
Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.
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Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.
PMID 16221972 · PMC1253841 · Nucleic acids research · 2005 · 8 claims · 6 setups
Reducing array complexity by pooling five BACs per spot (covering a chromosome arm) increases robustness to amplification-related ratio variation compared with single-BAC spotting
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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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Predicting survival within the lung cancer histopathological hierarchy using a multi-scale genomic model of development.
PMID 16800721 · PMC1483910 · PLoS medicine · 2006 · 8 claims · 8 setups
Multi-scale genomic similarities exist between four human lung cancer subtypes and the developing mouse lung, and these similarities are prognostically meaningful.
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WNT10B mutations in human obesity.
PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups
The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis
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Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.
PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups
Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Dynamics of the compartmentalized Streptomyces chromosome during metabolic differentiation.
PMID 34471117 · PMC8410849 · Nature communications · 2021 · 7 claims · 5 setups
Chromosome 3D structure in S. ambofaciens correlates with genetic compartmentalization during exponential phase, with the central region segmented into domains and quiescent terminal compartments
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ECgene: genome annotation for alternative splicing.
PMID 15608289 · PMC540072 · Nucleic acids research · 2005 · 8 claims · 5 setups
ECgene combines genome-based EST clustering with a graph-theoretic transcript assembly procedure to predict gene models including alternative splicing events.
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Expression of RAB4B, a protein governing endocytic recycling, is co-regulated with MHC class II genes.
PMID 17175541 · PMC1802633 · Nucleic acids research · 2007 · 7 claims · 7 setups
A typical MHC-II-like S-Y module is present upstream of the RAB4B transcription start site, identified by genome-wide profile scanning
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TranspoGene and microTranspoGene: transposed elements influence on the transcriptome of seven vertebrates and invertebrates.
PMID 17986453 · PMC2238949 · Nucleic acids research · 2008 · 8 claims · 5 setups
TranspoGene catalogs TEs within protein-coding genes of seven species (human, mouse, chicken, zebrafish, fruit fly, nematode, sea squirt), classified as proximal promoter, exonized, exonic, or intronic TEs.
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups
MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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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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Persistence of attenuated HIV-1 rev alleles in an epidemiologically linked cohort of long-term survivors infected with nef-deleted virus.
PMID 17601342 · PMC1933581 · Retrovirology · 2007 · 7 claims · 6 setups
Dominant, persistent rev alleles from SBBC subjects D36 and C64 show ~90% reduced Rev/RRE binding compared to HIV-1 NL4-3, C18, and C98 Revs.
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Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
PMID 17363414 · PMC2779891 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2007 · 8 claims · 6 setups
High-density oligonucleotide/SNP platforms are superior to the BAC platform for genome-wide detection of copy-number variations smaller than 1 Mb
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Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups
The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.
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Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.
PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL
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Analysis of X chromosome inactivation in autism spectrum disorders.
PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups
No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls