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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Computer-aided identification of polymorphism sets diagnostic for groups of bacterial and viral genetic variants.
PMID 17672919 · PMC1973086 · BMC bioinformatics · 2007 · 6 claims · 8 setups
The Not-N algorithm, incorporated into the Minimum SNPs program, identifies small marker sets diagnostic for user-defined subgroups of genetic variants with 0% false negatives
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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
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Environmental genome project: focusing on differences to understand the whole.
PMID 12460813 · PMC1241127 · Environmental health perspectives · 2002 · 8 claims · 4 setups
The EGP has generated a working list of more than 550 environmentally responsive genes involved in pathways such as metabolism, DNA repair, and cell cycle control as candidates for SNP resequencing.
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Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.
PMID 16091150 · PMC1208870 · BMC cancer · 2005 · 7 claims · 5 setups
Three of the five DNA repair genes (MRE11A, RAD50, XRCC4) do not conform to a contiguous haplotype block structure; instead SNPs in high LD can be non-contiguous, fitting a more flexible LD group paradigm
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Interspecies hybridization on DNA resequencing microarrays: efficiency of sequence recovery and accuracy of SNP detection in human, ape, and codfish mitochondrial DNA genomes sequenced on a human-specific MitoChip.
PMID 17894875 · PMC2211321 · BMC genomics · 2007 · 8 claims · 6 setups
Efficiency of sequence recovery and accuracy of SNP identification on a species-specific resequencing microarray decline as sequence divergence from the reference increases.
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Olden times: looking back on a career at the NIEHS.
PMID 15289171 · PMC1247486 · Environmental health perspectives · 2004 · 8 claims · 3 setups
Kenneth Olden served 13 years as director of NIEHS and the National Toxicology Program, the first African American to head an NIH institute
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Use of genomic data in risk assessment.
PMID 11983054 · PMC139345 · Genome biology · 2002 · 8 claims · 4 setups
New genomic technologies (CGH, SNP analysis, restriction landmark genome scanning, spectral karyotyping, transcript profiling) can be applied to improve risk assessment accuracy
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Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.
PMID 15850495 · PMC1090572 · BMC genetics · 2005 · 8 claims · 6 setups
Haplotype block definitions based on LD measures (Definitions 1, 2, 3, 5) produce fewer, shorter blocks with limited sequence coverage compared to the haplotype diversity-based method (Definition 4)
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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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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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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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Emerging strategies and applications of pharmacogenomics.
PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups
Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.
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An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.
PMID 16872505 · PMC1550395 · BMC medical genetics · 2006 · 7 claims · 7 setups
Marginally significant (uncorrected) transmission distortion was found for four SNPs after stratification by HLA-DRB1*1501 status, disease course, or gender.
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Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.
PMID 16684361 · PMC1488846 · BMC genomics · 2006 · 8 claims · 5 setups
The coding region of MRP1 shows evidence of negative selection or recent population expansion based on nucleotide diversity statistics
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Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups
Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R
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Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.
PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups
SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
PMID 19644707 · PMC2778717 · Human genetics · 2009 · 7 claims · 5 setups
Resequencing of the 97-kb 10q11.2 region identified 241 novel polymorphisms not previously reported in dbSNP
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Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?
PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups
The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term
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Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.
PMID 15588320 · PMC544879 · BMC genomics · 2004 · 8 claims · 8 setups
The hg16 automatic assembly of the 8p23.1 DEF locus contains misassemblies caused by segmental duplications and interindividual/intraindividual genetic variation