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).

• GPCR genes are preferentially retained after whole genome duplication.

  PMID 18382678 · PMC2270905 · PloS one · 2008 · 8 claims · 6 setups

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  WGD-derived nGPCR duplicates in Tetraodon nigroviridis are retained at a significantly higher rate (23.5%) than the genome-wide average (15%)

  vertebrate ngpcr nigroviridis syntenic phylogenetic chromosomal

• Does distance matter? Variations in alternative 3' splicing regulation.

  PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  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.

  intronic human-mouse same comparative polypyrimidine branch

• PRESTO: rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies.

  PMID 18620604 · PMC2483288 · BMC bioinformatics · 2008 · 8 claims · 4 setups

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  PRESTO is an order of magnitude faster than other existing permutation testing software for genetic association studies.

  case-control same wtccc genome-wide benchmark stratified

• Association of GSK3B with Alzheimer disease and frontotemporal dementia.

  PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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  The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

  genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization

• Genotyping of genetically monomorphic bacteria: DNA sequencing in Mycobacterium tuberculosis highlights the limitations of current methodologies.

  PMID 19915672 · PMC2772813 · PloS one · 2009 · 8 claims · 8 setups

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  MLSA of 89 genes across 108 global MTBC strains yields a single, highly robust phylogeny with virtually no homoplasy, congruent across parsimony, NJ, ML, and Bayesian methods.

  global mtbc miru-vntr multilocus spoligotyping 15-loci-miru-vntr

• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

  PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

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  A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

  affected family patients pedigree sanger pcr-based endocrine

• A moral history of the evolution of a caste of workers.

  PMID 8933047 · PMC1469704 · Environmental health perspectives · 1996 · 7 claims · 3 setups

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  The informed consent process used for beryllium worker genetic testing is morally invalid because workers cannot be fully informed or freely consenting, and the process protects the scientist/industry rather than the research subject.

  beryllium-exposed beryllium workers lymphocyte genetic bilirubin

• Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.

  PMID 18567820 · PMC2518507 · Diabetes · 2008 · 8 claims · 5 setups

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  CDC123/CAMK1D rs12779790 risk allele (homozygous) is associated with decreased insulinogenic index, corrected insulin response (CIR), and AUC-insulin/AUC-glucose ratio, indicating impaired insulin release

  inter99 same taqman oral general

• Putting science over supposition in the arena of personalized genomics.

  PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups

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  There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.

  adults same tested baseline multiplex telephone-based

• Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

  PMID 19644383 · PMC2815152 · Journal of acquired immune deficiency syndromes (1999) · 2009 · 8 claims · 3 setups

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  K65R mutation is present in a substantial proportion (10.9%) of Nigerian patients failing first-line ART, including many with no prior tenofovir exposure

  plasma k65r-positive hiv-1 comparative clinical

• Variants in the vitamin D receptor gene and asthma.

  PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups

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  VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region

  individuals children parents transmission bronchial pulmonary

• Evaluation of models to predict BRCA germline mutations.

  PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

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  Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

  proband pedigrees randomly brca1 brcapro manchester

• Prospective health care: the second transformation of medicine.

  PMID 16522218 · PMC1431721 · Genome biology · 2006 · 8 claims · 7 setups

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  Predictive biomarkers (genomic, proteomic, metabolomic) will enable quantification of disease risk and anticipation of onset before pathological damage occurs.

  cancer circulating breast population gene-expression proteomic 21-gene

• Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

  PMID 18363280 · PMC2686955 · The Korean journal of internal medicine · 2008 · 8 claims · 7 setups

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  The patient's resistance to thyroid hormone (RTH) was caused by a novel missense mutation (V349M, c.1045G>A) in exon 11 of the TRβ gene, the first such case reported in Korea.

  serum pituitary-thyroid thyroid sellar thyroid trh magnetic

• Optimized mixed Markov models for motif identification.

  PMID 16749929 · PMC1534070 · BMC bioinformatics · 2006 · 8 claims · 4 setups

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  OMiMa can incorporate more than NNSplice's pairwise dependencies

  simulated regulatory splice biological motif pairwise

• Proposed methods for testing and selecting the ERCC external RNA controls.

  PMID 16266432 · PMC1325234 · BMC genomics · 2005 · 8 claims · 5 setups

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  A consortium-developed, standardized set of external RNA control transcripts can be used to assess technical performance in gene expression assays (microarray and QRT-PCR)

  candidate linearized transcripts pools sequence transcription quality

• BABELOMICS: a systems biology perspective in the functional annotation of genome-scale experiments.

  PMID 16845052 · PMC1538844 · Nucleic acids research · 2006 · 8 claims · 8 setups

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  Babelomics is presented as an updated, complete suite of web tools for functional analysis of genome-scale experiments with new and improved modules

  pre-selected pre-tabulated genes ranked kegg expression text-mining

• The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.

  PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups

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  BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans

  genomic same participants genotyped snp hardy-weinberg clinical

• A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

  PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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  A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

  skeletal abductor genomic proband needle short muscle

• Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation.

  PMID 14735173 · PMC2410151 · British journal of cancer · 2004 · 6 claims · 3 setups

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  The DA had no impact on well-being (anxiety, depression, cancer-related distress, general health)

  women brca1 same randomised comparative validated