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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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations
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Novel mutation of the PRNP gene of a clinical CJD case.
PMID 17129366 · PMC1693557 · BMC infectious diseases · 2006 · 7 claims · 5 setups
A novel PRNP point mutation at codon 193 (ACC→ATC, T193I, C578T transition) was identified in a CJD patient, heterozygous for threonine/isoleucine
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Genome assembly comparison identifies structural variants in the human genome.
PMID 17115057 · PMC2674632 · Nature genetics · 2006 · 7 claims · 7 setups
Genome assembly comparison is a robust approach for identifying all classes of genetic variation, with no lower size limit.
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The evolution and genomic landscape of CGB1 and CGB2 genes.
PMID 17055150 · PMC2599907 · Molecular and cellular endocrinology · 2007 · 8 claims · 5 setups
CGB1 and CGB2 arose via insertion of a DNA fragment (736/724 bp) replacing part of the ancestral hCGβ promoter and 5'-UTR, creating a novel exon 1 and causing a frameshift that produces a completely different 132-aa protein unrelated to hCGβ
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Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy.
PMID 16984653 · PMC1618409 · BMC bioinformatics · 2006 · 8 claims · 6 setups
The proposed feature set outperforms existing published feature sets for predicting effects of amino acid substitutions
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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations
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Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.
PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups
Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.
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Predicting deleterious nsSNPs: an analysis of sequence and structural attributes.
PMID 16630345 · PMC1489951 · BMC bioinformatics · 2006 · 8 claims · 7 setups
Sequence conservation (PSIC score difference) at the nsSNP position is the single most useful attribute for predicting deleterious vs neutral status.
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Policy implications of genetic information on regulation under the Clean Air Act: the case of particulate matter and asthmatics.
PMID 16507451 · PMC1392222 · Environmental health perspectives · 2006 · 8 claims · 4 setups
The Clean Air Act mandates protection of sensitive subpopulations, including asthmatics, from air pollution health effects, creating an opening for genetic susceptibility data in regulation.
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A paradigm for virus-host coevolution: sequential counter-adaptations between endogenous and exogenous retroviruses.
PMID 17997604 · PMC2065879 · PLoS pathogens · 2007 · 8 claims · 5 setups
Two enJSRV proviruses (enJS56A1 and enJSRV-20) independently acquired a defective, transdominant Gag (R21W substitution) that blocks late replication steps of exogenous JSRV/ENTV
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InSite: a computational method for identifying protein-protein interaction binding sites on a proteome-wide scale.
PMID 17868464 · PMC2375030 · Genome biology · 2007 · 8 claims · 8 setups
InSite predicts protein-pair-specific binding motifs ('Motif M on protein A binds to protein B') by integrating heterogeneous PPI and motif-motif interaction evidence within a Bayesian network trained by EM
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Genotype-phenotype associations: modulation by diet and obesity.
PMID 19037211 · PMC2771769 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 7 setups
Obesity modulates the association between APOE genotype and fasting insulin/glucose levels in men, with obese APOE4 carriers showing higher insulin and glucose than other obese genotype groups.
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Better smelling through genetics: mammalian odor perception.
PMID 18938244 · PMC2590501 · Current opinion in neurobiology · 2008 · 8 claims · 8 setups
Odorant receptor (OR) gene repertoire size and pseudogene fraction vary dramatically across mammalian species
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Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.
PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups
Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb
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Evidence for positive selection in putative virulence factors within the Paracoccidioides brasiliensis species complex.
PMID 18820744 · PMC2553485 · PLoS neglected tropical diseases · 2008 · 8 claims · 8 setups
Positive selection has played an important role in the molecular evolution of putative virulence factors of P. brasiliensis
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Systems genetics of alcoholism.
PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups
Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.
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A single-step sequencing method for the identification of Mycobacterium tuberculosis complex species.
PMID 18618024 · PMC2453075 · PLoS neglected tropical diseases · 2008 · 7 claims · 8 setups
ETR-D sequencing allows accurate, single-step identification of MTC species, circumventing the expensive polyphasic approach.
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Comprehensive transcriptome study to develop molecular resources of the copepod Calanus sinicus for their potential ecological applications.
PMID 24982883 · PMC4055022 · BioMed research international · 2014 · 8 claims · 8 setups
Illumina RNA-Seq with Trinity de novo assembly produced a C. sinicus transcriptome of 69,751 contigs (average 928.8 bp, N50 1,127 bp) from 58.9 million reads.
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups
A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys
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Nutrigenomics in cardiovascular medicine.
PMID 20031645 · PMC2810265 · Circulation. Cardiovascular genetics · 2009 · 8 claims · 8 setups
The main problem facing Nutrigenomics is the lack of replication of initially reported gene-diet interactions, which precludes their present application in CVD prevention and treatment.