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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Rapid creation of BAC-based human artificial chromosome vectors by transposition with synthetic alpha-satellite arrays.
PMID 15673719 · PMC548352 · Nucleic acids research · 2005 · 8 claims · 5 setups
Presence of CENP-B box elements is required for efficient de novo centromere formation in HAC vectors
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A high throughput method for genome-wide analysis of retroviral integration.
PMID 17028098 · PMC1636494 · Nucleic acids research · 2006 · 8 claims · 8 setups
VITA uses MmeI to cleave DNA at a fixed distance from its recognition site, generating 21-22 bp genomic tags that serve as signatures of lentiviral integration sites.
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Investigations on a clinically and functionally unusual and novel germline p53 mutation.
PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups
A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.
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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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Evolutionary algorithms for the selection of single nucleotide polymorphisms.
PMID 12875658 · PMC183839 · BMC bioinformatics · 2003 · 8 claims · 3 setups
Evolutionary algorithms are well suited to multiobjective optimization problems with large, intractable search spaces such as SNP selection, unlike exact methods (exhaustive enumeration) or single-objective search techniques (tabu search, simulated annealing).
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups
The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.
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Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.
PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).
PMID 15234325 · PMC7129141 · International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2004 · 7 claims · 3 setups
Human aminopeptidase N (APN/CD13/ANPEP) is the receptor for human coronavirus 229E (HCoV-229E)
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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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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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.
PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups
Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.
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Classification of real and pseudo microRNA precursors using local structure-sequence features and support vector machine.
PMID 16381612 · PMC1360673 · BMC bioinformatics · 2005 · 7 claims · 7 setups
A 32-dimensional triplet structure-sequence feature vector combined with SVM (triplet-SVM) can distinguish real human pre-miRNAs from pseudo pre-miRNA hairpins with ~90% accuracy.
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Selection of target sites for mobile DNA integration in the human genome.
PMID 17166054 · PMC1664696 · PLoS computational biology · 2006 · 8 claims · 8 setups
A comprehensive bioinformatic method was developed to annotate every base pair in the human genome for its likelihood of hosting integration by each of seven mobile DNA elements, using >200 genomic feature variables.
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GREM, a technique for genome-wide isolation and quantitative analysis of promoter active repeats.
PMID 16698959 · PMC3303178 · Nucleic acids research · 2006 · 7 claims · 5 setups
GREM enables genome-wide isolation and quantitative analysis of transcriptionally active (promoter-active) repetitive elements while excluding read-through transcript background
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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups
Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Evolution of variants of yeast site-specific recombinase Flp that utilize native genomic sequences as recombination target sites.
PMID 17003057 · PMC1635253 · Nucleic acids research · 2006 · 8 claims · 8 setups
Stepwise directed evolution using chimeric FLRT (FRT/genomic hybrid) intermediate sites can generate Flp variants capable of recombining native genomic FRT-like sequences from the human IL10 gene (FL-IL10A, FL-IL10B).