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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Genome-scale validation of deep-sequencing libraries.
PMID 19002256 · PMC2577887 · PloS one · 2008 · 6 claims · 4 setups
Mab-seq allows a small aliquot of a ChIP-seq sequencing library to be labeled and hybridized to commercial microarrays for quality control before deep sequencing, without compromising the library for subsequent sequencing.
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Restriction landmark genomic scanning (RLGS) spot identification by second generation virtual RLGS in multiple genomes with multiple enzyme combinations.
PMID 18053125 · PMC2235865 · BMC genomics · 2007 · 7 claims · 4 setups
A second-generation virtual RLGS (vRLGS) system predicts DNA fragment migration using sequence characteristics plus fragment length, and is applicable to any sequenced genome and enzyme combination
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Organization and evolution of the Cyp2 gene cluster on mouse chromosome 7, and comparison with the syntenic human cluster.
PMID 14630516 · PMC1241748 · Environmental health perspectives · 2003 · 8 claims · 6 setups
The mouse Cyp2a-t cluster on chromosome 7 contains 22 loci from the same six CYP2 subfamilies (Cyp2a, Cyp2b, Cyp2f, Cyp2g, Cyp2s, Cyp2t) found in the human cluster
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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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The absence of Mth1 inactivation and DNA polymerase kappa overexpression in rat mammary carcinomas with frequent A:T to C:G transversions.
PMID 12036445 · PMC5927037 · Japanese journal of cancer research : Gann · 2002 · 8 claims · 5 setups
SNI (elevated spontaneous point mutation rate without microsatellite instability) is present in rat mammary carcinoma cell lines and human breast cancer cell lines
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Sequence determinants of human microsatellite variability.
PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups
Mean and maximum number of repeats across individuals are positively correlated with heterozygosity
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SelTarbase, a database of human mononucleotide-microsatellite mutations and their potential impact to tumorigenesis and immunology.
PMID 19820113 · PMC2808963 · Nucleic acids research · 2010 · 7 claims · 6 setups
SelTarbase is a curated relational database of published mononucleotide-repeat mutation data from MSI-H human colorectal, gastric, endometrial tumors and colon cancer cell lines.
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Genomes of Helicobacter pylori from native Peruvians suggest admixture of ancestral and modern lineages and reveal a western type cag-pathogenicity island.
PMID 16872520 · PMC1553449 · BMC genomics · 2006 · 8 claims · 7 setups
Native Peruvian H. pylori strains comprise two lineages: predominant hp-Europe and ~20% hsp-Amerind (Amerindian ancestry, closer to Alaska strains)
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Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
PMID 11556835 · PMC2375072 · British journal of cancer · 2001 · 6 claims · 4 setups
MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb
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Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements.
PMID 17855397 · PMC2094090 · Nucleic acids research · 2007 · 8 claims · 5 setups
A new weighted formula that accounts for the number of methylated CpG sites per fragment removes the bias of the original MassCLEAVE™ formula toward higher apparent methylation in fragments with more CpG sites.
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Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.
PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups
No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients
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Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.
PMID 17442112 · PMC1863428 · BMC cancer · 2007 · 7 claims · 5 setups
CYYR1 mRNA undergoes a 'subtle' alternative splicing event generating two isoforms (CAG- and CAG+) differing by a single alanine codon at the exon3/exon4 junction
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.
PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups
HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals
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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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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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Inconsistencies in Neanderthal genomic DNA sequences.
PMID 17937503 · PMC2014787 · PLoS genetics · 2007 · 8 claims · 6 setups
The Noonan et al. and Green et al. Neanderthal nuclear DNA datasets yield mutually inconsistent estimates of population split time and Neanderthal admixture proportion when analyzed with the same method
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Automated recognition of retroviral sequences in genomic data--RetroTector.
PMID 17636050 · PMC1976444 · Nucleic acids research · 2007 · 8 claims · 8 setups
RetroTector uses 'fragment threading' (detection of chains of conserved retroviral motifs satisfying distance constraints) combined with LTR detection and protein reconstruction to identify ERVs in genomic sequences
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Transduplication resulted in the incorporation of two protein-coding sequences into the turmoil-1 transposable element of C. elegans.
PMID 18842128 · PMC2572040 · Biology direct · 2008 · 8 claims · 6 setups
The Turmoil-1 transposable element in C. elegans incorporated two unrelated protein-coding sequences into its inverted terminal repeats (ITRs)