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).

• Complex genetic diseases: controversy over the Croesus code.

  PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups

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  The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.

  chromosome northern disease large-scale genome-wide database

• PubMatrix: a tool for multiplex literature mining.

  PMID 14667255 · PMC317283 · BMC bioinformatics · 2003 · 8 claims · 3 setups

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  PubMatrix is a web-based CGI tool that queries PubMed with two lists of terms (search terms vs modifier terms) and returns a matrix of pairwise co-occurrence frequency counts

  pubmed ovarian genome literature cdna

• SNP-VISTA: an interactive SNP visualization tool.

  PMID 16336665 · PMC1325058 · BMC bioinformatics · 2005 · 7 claims · 3 setups

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  SNP-VISTA is an interactive Java-based visualization tool with two versions, GeneSNP-VISTA and EcoSNP-VISTA, for exploring large-scale SNP datasets

  abo homologous acid snp multi-species blast-based

• Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

  PMID 16225677 · PMC1274336 · BMC psychiatry · 2005 · 8 claims · 3 setups

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  Systematic mutation screening of KIAA0767 and KIAA1646 was performed in chromosome 22q-linked periodic catatonia pedigrees

  genomic unrelated systematic case-control

• Computational identification of transcriptional regulatory elements in DNA sequence.

  PMID 16855295 · PMC1524905 · Nucleic acids research · 2006 · 8 claims · 3 setups

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  Weight matrix (PWM/PSSM) models of TF binding sites are grounded in biophysical theory of protein-DNA interactions, with position weights corresponding to log-odds contributions to binding free energy

  saccharomyces generic pwm-based pwm

• 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

• Identifying the important HIV-1 recombination breakpoints.

  PMID 18787691 · PMC2522274 · PLoS computational biology · 2008 · 8 claims · 3 setups

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  Local sequence identity between co-packaged parental RNAs strongly influences the probability of strand-transfer/breakpoint location, with fewer breakpoints occurring near mismatches

  inter-subtype parental copy-choice probabilistic comparative

• A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.

  PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups

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  The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects

  genomic subset genotype pcr-based sequencing chi-square

• Genome Wide Association Studies: identifying the genes that determine the risk of abdominal aortic aneurysm.

  PMID 18621558 · PMC2697027 · European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery · 2008 · 8 claims · 3 setups

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  AAA has a strong genetic component, with up to ten-fold increased risk in first-degree relatives of affected individuals

  aaa cases candidate genome-wide

• Understanding genetic epidemiologic association studies Part 1: fundamentals.

  PMID 19962167 · PMC2843757 · Surgery · 2010 · 8 claims · 3 setups

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  Genetic epidemiology aims to establish whether a disease has a genetic component while accounting for environmental influences.

  familial study genome-wide candidate high-throughput

• Modeling genetic inheritance of copy number variations.

  PMID 18832372 · PMC2588508 · Nucleic acids research · 2008 · 8 claims · 4 setups

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  A joint HMM framework for parents-offspring trios significantly improves CNV call rates and boundary inference accuracy compared to existing methods.

  simulated parent-offspring hapmap hmm-based snp genotype

• Bayesian estimates of linkage disequilibrium.

  PMID 17592642 · PMC1924864 · BMC genetics · 2007 · 8 claims · 3 setups

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  The MLE of D' is biased toward disequilibrium, with the bias particularly severe in small samples (<100 subjects) and rare alleles (MAF<0.05)

  simulated genotype pairwise computer genotype bayesian

• Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

  PMID 16026601 · PMC1637030 · BMC bioinformatics · 2005 · 8 claims · 2 setups

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  DF-SNPs, a novel adaptation of the Decision Forest method, can classify esophageal cancer cases vs. controls based on SNP genotype data with high concordance, sensitivity, and specificity.

  genomic snp high-throughput decision

• Review of state Comprehensive Cancer Control plans for genomics content.

  PMID 15888219 · PMC1327702 · Preventing chronic disease · 2005 · 8 claims · 2 setups

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  18 of 30 state CCC plans analyzed contained genomics-related components, with wide variability in content

  written ccc content semistructured

• The UCSC Proteome Browser.

  PMID 15608236 · PMC540054 · Nucleic acids research · 2005 · 8 claims · 5 setups

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  The UCSC Proteome Browser is tightly integrated with the UCSC Genome Browser, giving users simultaneous access to genome and proteome data.

  swiss-prot sequence domain isoelectric

• SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.

  PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups

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  SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies

  anonymized coriell bi-directional taqman mgb

• Shaken not stirred: a global research cocktail served in Hinxton.

  PMID 18036269 · PMC2258181 · Genome biology · 2007 · 8 claims · 8 setups

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  Network-guided reverse genetics using probabilistic functional gene networks (e.g. YeastNet, WormNet) reduces the search space for identifying genes in a given biological process

  budding caenorhabditis drosophila escherichia two-color double chip-chip

• Outlook on Thailand's genomics and computational biology research and development.

  PMID 18654621 · PMC2446437 · PLoS computational biology · 2008 · 8 claims · 8 setups

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  Thai government policy support, infrastructure investment, education programs, and human resource development have substantially advanced genomics and bioinformatics research capacity in Thailand

  burkholderia rice healthy thai genome snp htsnp

• COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.

  PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups

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  COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction

  cancer tumour manual semi-automated candidate

• The Rat Genome Database, update 2007--easing the path from disease to data and back again.

  PMID 17151068 · PMC1761441 · Nucleic acids research · 2007 · 8 claims · 1 setups

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  RGD introduced disease portals that unify rat, mouse, and human gene, QTL, and strain data for neurological disease (with a cardiovascular portal planned) to ease the path from disease to data

  rgd web