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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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.
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Has reproduction · 95
Comparative Genome Analysis of 16SrXII-A 'Candidatus Phytoplasma solani' POT Transmitted by Hyalesthes obsoletus.
PMID 41597744 · PMC12843639 · Microorganisms · 2026 · 7 claims · 8 setups
The complete 832,614 bp circular chromosome of the H. obsoletus-transmissible 'Ca. P. solani' 16SrXII-A strain POT was assembled and functionally reconstructed.
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A genome annotation-driven approach to cloning the human ORFeome.
PMID 15461802 · PMC545604 · Genome biology · 2004 · 8 claims · 8 setups
Existing human cDNA clone collections together provide only 60% coverage of full-length chromosome 22 ORFs, with the best single collection (MGC) providing 48%
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Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).
PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups
89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer
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Comparative genomic mapping of the bovine Fragile Histidine Triad (FHIT) tumour suppressor gene: characterization of a 2 Mb BAC contig covering the locus, complete annotation of the gene, analysis of cDNA and of physiological expression profiles.
PMID 16719907 · PMC1513570 · BMC genomics · 2006 · 8 claims · 5 setups
A 2 Mb BAC contig of 78 clones was assembled covering the entire bovine FHIT locus
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Complete genome sequence of Treponema pallidum ssp. pallidum strain SS14 determined with oligonucleotide arrays.
PMID 18482458 · PMC2408589 · BMC microbiology · 2008 · 8 claims · 6 setups
CGS combined with targeted DDT sequencing and whole genome fingerprinting (WGF) can accurately determine a treponemal genome sequence using only three arrays, at accuracy comparable to or better than finished DDT sequencing
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Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.
PMID 19812598 · PMC2825112 · The Journal of investigative dermatology · 2010 · 8 claims · 5 setups
EGFR is activated by somatic mutation in a small subset of cutaneous SCC
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Decoding of superimposed traces produced by direct sequencing of heterozygous indels.
PMID 18654614 · PMC2429969 · PLoS computational biology · 2008 · 7 claims · 3 setups
A dynamic programming method (implemented as web app Indelligent) can decode superimposed allelic sequences from a single mixed trace, using only the observed string of ambiguous peak calls, without a reference sequence or reverse trace.
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SNPdetector: a software tool for sensitive and accurate SNP detection.
PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups
SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection
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Comparative genomics search for losses of long-established genes on the human lineage.
PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups
A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.
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p16 mutation spectrum in the premalignant condition Barrett's esophagus.
PMID 19043591 · PMC2585012 · PloS one · 2008 · 8 claims · 6 setups
44 of 304 Barrett's esophagus patients (14.5%) had p16 mutations (47 total mutations), with a spectrum consistent with oxidative damage and chronic inflammation
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Oncogenic mutations in GNAQ occur early in uveal melanoma.
PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups
Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM
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Analysis of expressed sequence tags from Actinidia: applications of a cross species EST database for gene discovery in the areas of flavor, health, color and ripening.
PMID 18655731 · PMC2515324 · BMC genomics · 2008 · 7 claims · 6 setups
A collection of 132,577 ESTs from four Actinidia species was generated and clustered into 41,858 non-redundant clusters (18,070 TCs and 23,788 singletons)
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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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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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.
PMID 19671847 · PMC2892178 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 5 setups
Genomic profiling by aCGH can distinguish clonal tumors from independent primaries with high confidence by identifying matching versus non-matching regions of allelic gain/loss.
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G, N, and P gene-based analysis of Chandipura viruses, India.
PMID 15705335 · PMC3294343 · Emerging infectious diseases · 2005 · 8 claims · 4 setups
The 2003 epidemic CHPV isolates are closely related to, and not very divergent from, the 1965 isolate, indicating the outbreak was not associated with extensive mutations in the G, N, and P genes.