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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Assaying chromosomal inversions by single-molecule haplotyping.
PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups
Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype
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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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Heterotachy in mammalian promoter evolution.
PMID 16683025 · PMC1449885 · PLoS genetics · 2006 · 8 claims · 5 setups
The rate of promoter evolution relative to control sequences is not consistent between or within mammalian lineages over time (heterotachy)
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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Four genomic islands that mark post-1995 pandemic Vibrio parahaemolyticus isolates.
PMID 16672049 · PMC1464126 · BMC genomics · 2006 · 8 claims · 7 setups
Seven genomic islands (VPaI-1 to VPaI-7, 10-81 kb) were identified in V. parahaemolyticus RIMD2210633 by aberrant GC content, presence of integrases/transposases, flanking direct repeats, and absence from related Vibrionaceae genomes.
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups
Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.
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Bias of selection on human copy-number variants.
PMID 16482228 · PMC1366494 · PLoS genetics · 2006 · 8 claims · 8 setups
Human CNVs are significantly overrepresented near telomeres and centromeres and enriched in simple tandem repeats relative to the genome as a whole
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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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Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
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High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.
PMID 16432260 · PMC1345698 · Nucleic acids research · 2006 · 8 claims · 5 setups
A 96-well high-throughput bisulfite modification (HTBM) method was developed and validated against single-sample bisulfite modification (SSBM), producing comparable methylation results even from as little as 3 ng DNA.
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Microarray-based DNA methylation profiling: technology and applications.
PMID 16428248 · PMC1345696 · Nucleic acids research · 2006 · 7 claims · 6 setups
A microarray-based method enriching unmethylated and methylated DNA fractions via methylation-sensitive restriction enzymes followed by hybridization enables high-throughput DNA methylation profiling of large genomic regions.
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miRNAMap: genomic maps of microRNA genes and their target genes in mammalian genomes.
PMID 16381831 · PMC1347497 · Nucleic acids research · 2006 · 6 claims · 6 setups
miRNAMap integrates known miRNA genes from miRBase, literature-curated validated targets, and computationally predicted miRNA genes and targets for human, mouse, rat and dog.
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Personalized genomic medicine with a patchwork, partially owned genome.
PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups
Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.
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Diversity of preferred nucleotide sequences around the translation initiation codon in eukaryote genomes.
PMID 18086709 · PMC2241899 · Nucleic acids research · 2008 · 8 claims · 5 setups
Preferred nucleotide sequences around the initiation codon are diverse among eukaryote species, but differences roughly reflect evolutionary relationships between species
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In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
PMID 18076761 · PMC2222643 · BMC genomics · 2007 · 8 claims · 7 setups
A panel of 24 SNPs was selected and validated for human identification using 1,040 unrelated samples from three populations (Italian, Benin Gulf, Mongolian)
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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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Comparative genomic analysis of Campylobacter jejuni associated with Guillain-Barré and Miller Fisher syndromes: neuropathogenic and enteritis-associated isolates can share high levels of genomic similarity.
PMID 17919333 · PMC2174954 · BMC genomics · 2007 · 8 claims · 4 setups
GBS/MFS strains are genomically heterogeneous, falling into about six major lineages rather than a single clonal group
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Molecular analysis of a leprosy immunotherapeutic bacillus provides insights into Mycobacterium evolution.
PMID 17912347 · PMC1989137 · PloS one · 2007 · 8 claims · 8 setups
MIP is the evolutionary predecessor/ancestor of the pathogenic Mycobacterium avium intracellulare complex (MAIC), having retained a free-living lifestyle rather than undergoing parasitic reductive genome evolution
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Paired-end mapping reveals extensive structural variation in the human genome.
PMID 17901297 · PMC2674581 · Science (New York, N.Y.) · 2007 · 8 claims · 8 setups
Paired-end mapping (PEM) combining 3-kb fragment paired-end capture, massive 454 sequencing, and computational mapping detects SVs ~3 kb or larger with an average breakpoint resolution of 644 bp
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Challenges and standards in integrating surveys of structural variation.
PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups
There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.