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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Characterization of the influenza A H5N1 viruses of the 2008-09 outbreaks in India reveals a third introduction and possible endemicity.
PMID 19924254 · PMC2775943 · PloS one · 2009 · 7 claims · 5 setups
All 2008-09 Indian H5N1 isolates belong to the EMA3 sublineage of clade 2.2
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Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia.
PMID 19922672 · PMC2789746 · Malaria journal · 2009 · 8 claims · 8 setups
Two distinctive COI haplotype groups were consistently detected, corresponding to the Caribbean and Pacific regions.
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia
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Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.
PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups
The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.
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A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.
PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups
Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression
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DBTSS provides a tissue specific dynamic view of Transcription Start Sites.
PMID 19910371 · PMC2808897 · Nucleic acids research · 2010 · 8 claims · 8 setups
DBTSS update adds ~330 million new TSS Seq tags from 31 different human/mouse cell types or culture conditions.
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MBD-isolated Genome Sequencing provides a high-throughput and comprehensive survey of DNA methylation in the human genome.
PMID 19906696 · PMC2811030 · Nucleic acids research · 2010 · 6 claims · 4 setups
MiGS combines MBD2 MBD-domain precipitation of methylated DNA with massively parallel sequencing to enable unbiased, high-throughput genome-wide DNA methylation profiling
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Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups
No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family
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Next-generation sequencing in aging research: emerging applications, problems, pitfalls and possible solutions.
PMID 19900591 · PMC2878865 · Ageing research reviews · 2010 · 8 claims · 8 setups
NGS platforms offer superior performance, specificity, and cost-effectiveness compared to traditional Sanger sequencing
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Genome sequence, comparative analysis, and population genetics of the domestic horse.
PMID 19892987 · PMC3785132 · Science (New York, N.Y.) · 2009 · 8 claims · 7 setups
Produced a high-quality draft genome assembly of the domestic horse (EquCab2.0)
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Genome analysis of multi- and extensively-drug-resistant tuberculosis from KwaZulu-Natal, South Africa.
PMID 19890396 · PMC2767505 · PloS one · 2009 · 8 claims · 4 setups
Rifampicin resistance (rpoB) and pyrazinamide resistance (pncA) mutations occur at different nucleotide positions in the MDR and XDR strains, showing they were acquired independently and that the XDR strain did not evolve directly from this MDR strain.
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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.
PMID 19888326 · PMC2765618 · PloS one · 2009 · 7 claims · 4 setups
The frequency of SAA1 alpha/alpha homozygotes is much higher among Armenian FMF patients (24%) than Karabakhian FMF patients (4%)
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups
Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway
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Genetic variation in PARL influences mitochondrial content.
PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups
PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis
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The role of genomics in the identification, prediction, and prevention of biological threats.
PMID 19855827 · PMC2757898 · PLoS biology · 2009 · 8 claims · 5 setups
Genomics should be used proactively, not just reactively, to build biopreparedness against biological threats
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Evolutionary dynamics of human rotaviruses: balancing reassortment with preferred genome constellations.
PMID 19851457 · PMC2760143 · PLoS pathogens · 2009 · 8 claims · 4 setups
Genetically distinct RV clades of the same G/P-type (G3P[8]) can co-circulate within a single epidemic season and cause disease
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.
PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups
An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.