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).

• Molecular archeology of L1 insertions in the human genome.

  PMID 12372140 · PMC134481 · Genome biology · 2002 · 8 claims · 4 setups

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  TSDfinder, a new algorithm, refines RepeatMasker-identified L1 boundaries by locating poly(A) tails, TSDs, and inversion breakpoints

  genome tsd 50-nt full-length repeat sequence repeat-content

• A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

  PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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  A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

  genomic plasma serum n=317 pcr-sscp nucleotide genotyping

• Comparative genomic study reveals a transition from TA richness in invertebrates to GC richness in vertebrates at CpG flanking sites: an indication for context-dependent mutagenicity of methylated CpG sites.

  PMID 19329065 · PMC5054122 · Genomics, proteomics & bioinformatics · 2008 · 8 claims · 8 setups

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  Nucleotide preference at CpG flanking sites transitions from 5' T (invertebrates) to 5' A (vertebrates) at the invertebrate-vertebrate boundary

  genomes same pufferfish elegans nucleotide genome-wide kruskal-wallis

• Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

  PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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  SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

  affected short pcr perchlorate

• Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.

  PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups

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  Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.

  reference unigene ensembl normal tandem polymorphism gene

• Sequence determinants of human microsatellite variability.

  PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups

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  Mean and maximum number of repeats across individuals are positively correlated with heterozygosity

  hgdp-ceph genome calibrated microsatellite blastn sequence

• Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).

  PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups

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  The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species

  tlr4 mus chimpanzee baboon genomic coding sequence

• Retropseudogenes derived from the human Ro/SS-A autoantigen-associated hY RNAs.

  PMID 15817567 · PMC1074747 · Nucleic acids research · 2005 · 8 claims · 8 setups

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  966 pseudogenes derived from the four human Y (hY) RNAs were characterized in the human genome

  genome chimpanzee pseudogenes genomic megablast blat sequence

• Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

  PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups

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  All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism

  genomic pcr-amplified ldlr blood long-range cycle diagnostic

• Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.

  PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups

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  CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population

  genomic hut78 t-cells direct pcr dual

• Large genomic rearrangements in the CFTR gene contribute to CBAVD.

  PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

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  Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

  genomic pcr cftr semi-quantitative junction direct

• Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

  PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups

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  Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency

  erythrocyte genomic peripheral erythrocytes sds-page non-denaturing direct

• A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

  PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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  A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

  affected family blood frmd7 microsatellite direct denaturing

• Analysis of recent segmental duplications in the bovine genome.

  PMID 19951423 · PMC2796684 · BMC genomics · 2009 · 8 claims · 6 setups

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  Recently duplicated sequence (≥1 kb, ≥90% identity) comprises 3.11% (94.4 Mb) of the bovine genome assembly (Btau_4.0)

  bos bovine genes cattle genome fluorescent repeat

• 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

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  B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence

  dutch additional pertussis ptxp3 multi-locus multiple-locus microarray-based

• Rapid detection and curation of conserved DNA via enhanced-BLAT and EvoPrinterHD analysis.

  PMID 18307801 · PMC2268679 · BMC genomics · 2008 · 8 claims · 8 setups

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  eBLAT detects up to 75% more conserved bases than original BLAT alignments, with the largest gains between evolutionarily distant orthologs

  drosophila caenorhabditis xenopus five pairwise evoprint comparison

• CTCF binding site classes exhibit distinct evolutionary, genomic, epigenomic and transcriptomic features.

  PMID 19922652 · PMC3091324 · Genome biology · 2009 · 8 claims · 8 setups

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  CTCF binding sites can be classified into three occupancy-based classes (LowOc, MedOc, HighOc) based on similarity to the CTCF PWM motif

  cd4+ hela imr90 embryonic chip-seq computational gene

• 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

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  Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2

  genomic peripheral setx sanger dosage long-range