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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Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.
PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups
B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence
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Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.
PMID 17012280 · PMC1636463 · Nucleic acids research · 2006 · 7 claims · 5 setups
DSBs induced at the TRS/vector junction (EcoRV site) generate numerous mutagenic events in flanking sequences, whereas DSBs within the repeat tract (EcoRI site) produce no such mutants
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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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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).
PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups
The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species
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High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.
PMID 11714443 · PMC5926665 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 5 setups
A high proportion (12/15, 80%) of gamma-ray-induced HPRT-deficient mutants in A-T (GM2783) cells are deletions
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Human SNPs resulting in premature stop codons and protein truncation.
PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups
Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.
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Sequence context affects the rate of short insertions and deletions in flies and primates.
PMID 18291026 · PMC2374710 · Genome biology · 2008 · 8 claims · 6 setups
The rate of insertion or deletion of specific lengths can vary by more than 100-fold depending on the surrounding sequence context
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Expanding CEP290 mutational spectrum in ciliopathies.
PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.
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Molecular phylogeny of the antiangiogenic and neurotrophic serpin, pigment epithelium derived factor in vertebrates.
PMID 17020603 · PMC1609119 · BMC genomics · 2006 · 8 claims · 8 setups
A single PEDF gene is present in all examined vertebrate species but is absent from invertebrates (D. melanogaster, C. elegans, C. intestinalis)
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Has reproduction · 61
TEMP: a computational method for analyzing transposable element polymorphism in populations.
PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups
TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.
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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups
The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17
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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups
Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2