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).

• Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.

  PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups

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  Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.

  gene nuclear sle tdt keyword-based snp transmission

• Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

  PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups

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  GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region

  caucasian same subjects xenopus snp linkage haplotype

• The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples.

  PMID 18460190 · PMC2391158 · BMC medical genetics · 2008 · 8 claims · 4 setups

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  A novel candidate-gene selection strategy combining unbiased schizophrenia expression/linkage data with the estrogen hypothesis as a biological filter identifies glycolysis as a candidate pathway network for schizophrenia

  case-control same compilation snp haplotype pairwise

• Association of the MAPT locus with Parkinson's disease.

  PMID 19912324 · PMC3906622 · European journal of neurology · 2010 · 7 claims · 5 setups

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  H1/H2-tagging SNPs rs1052553 (MAPT) and rs62063857 (Saitohin/STH) are significantly associated with increased risk of PD

  patients caucasian snp haplotype linkage

• Causal models in epidemiology: past inheritance and genetic future.

  PMID 16859537 · PMC1557493 · Environmental health : a global access science source · 2006 · 8 claims · 3 setups

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  Interaction is a fundamental characteristic of any causal process involving probabilistic steps, not a second-order phenomenon identified after accounting for main effects

  smokers population cohort observational biomarker pulmonary

• Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

  PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups

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  DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis

  extremely families genome sanger case-control family-based

• Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates.

  PMID 16627870 · PMC1440945 · Nucleic acids research · 2006 · 7 claims · 3 setups

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  A GLMM-based test statistic that models the nested structure of array replicate/strand/probe measurements achieves correct type I error, unlike naive or t-test based statistics.

  endometriosis individual pooling concentration pcr-based

• Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

  PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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  A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

  ovarian case matched same pcr-sscp subcloning loh

• Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

  PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups

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  Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.

  peripheral case molecular continuous serum

• The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

  PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups

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  The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.

  blood genomic subjects trios taqman microsatellite clinical

• No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

  PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

  germline genomic identified individuals sequencing pcr mlpa

• Logical Analysis of Data (LAD) model for the early diagnosis of acute ischemic stroke.

  PMID 18616825 · PMC2492849 · BMC medical informatics and decision making · 2008 · 7 claims · 5 setups

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  An LAD classification model built from a support-set of 3 peptide peaks can distinguish stroke patients from controls with 75% accuracy on an independent validation set

  plasma discretized seldi-tof serum logical

• Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.

  PMID 18366776 · PMC2311324 · BMC neurology · 2008 · 6 claims · 3 setups

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  ACE I/D genotype and allele distributions do not differ significantly between migraine patients and controls

  genomic migraine pcr clinical

• Partial correlation network analysis identifies coordinated gene expression within a regional cluster of COPD genome-wide association signals.

  PMID 39418301 · PMC11521246 · PLoS computational biology · 2024 · 7 claims · 4 setups

  Has reproduction · 23

  COPD GWAS loci are more spatially clustered across the genome than expected by chance, with significant enrichment on chromosome 4q.

  lung sakornsakolpat string bulk microarray gwas

• High-throughput genomic technology in research and clinical management of breast cancer. Plasma-based proteomics in early detection and therapy.

  PMID 17184556 · PMC1797031 · Breast cancer research : BCR · 2006 · 8 claims · 8 setups

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  Plasma is well suited to proteomic biomarker discovery because it is easily obtained, routinely used diagnostically, and has a rich proteome.

  plasma serum maldi-tof seldi-tof tandem

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation

• Genetic determinants of virulence in pathogenic lineage 2 West Nile virus strains.

  PMID 18258114 · PMC2600181 · Emerging infectious diseases · 2008 · 8 claims · 7 setups

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  The nonstructural genes, especially NS5, are the most variable regions between highly and less neuroinvasive lineage 2 WNV strains

  lineage mice patients complete phylogenetic nucleotide

• Proteomics analysis reveals novel components in the detergent-insoluble subproteome in Alzheimer's disease.

  PMID 19746990 · PMC2784247 · Journal of proteome research · 2009 · 8 claims · 5 setups

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  A label-free XIC-based LC-MS/MS quantitation strategy, combined with an FTLD-U comparator cohort, can be used to identify AD-specific changes in the detergent-insoluble brain subproteome.

  pooled postmortem individual detergent-insoluble lc-ms sequential sds-page

• PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.

  PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups

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  PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing

  simulated gaw12 breast monte pedigree-based genetic