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).

• DNA bar coding and pyrosequencing to identify rare HIV drug resistance mutations.

  PMID 17576693 · PMC1934997 · Nucleic acids research · 2007 · 6 claims · 7 setups

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  DNA bar coding combined with pyrosequencing allows parallel, deep characterization of drug resistance mutations across many HIV populations in a single experiment

  hiv pooled plasma pyrosequencing conventional rt-pcr

• Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

  PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups

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  A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C

  genomic de-identified multiplex sanger clinical

• Adapting to a changing world: RAG genomics and evolution.

  PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups

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  RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.

  rag-1 patients zebrafish vertebrate comparative site-directed clinical

• Profiling critical cancer gene mutations in clinical tumor samples.

  PMID 19924296 · PMC2774511 · PloS one · 2009 · 7 claims · 4 setups

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  OncoMap, a panel of ~400 mass-spectrometric genotyping assays targeting 33 cancer genes, enables robust mutation profiling of clinical fresh-frozen and FFPE tumor DNA.

  clinical fresh same pediatric mass sanger barcoded

• The past and future of tuberculosis research.

  PMID 19855821 · PMC2745564 · PLoS pathogens · 2009 · 8 claims · 6 setups

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  Integrating systems biology with epidemiology ('systems epidemiology') will be required to better predict TB's trajectory and eliminate the disease

  clinical mycobacterium mtbc patients fingerprinting whole-genome microarray

• Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

  PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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  I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

  genomic pcr unselected i1307k mutation sequencing clinical

• Association study of T102C 5-HT(2A) polymorphism in schizophrenic patients: diagnosis, psychopathology, and suicidal behavior.

  PMID 17506229 · PMC3181846 · Dialogues in clinical neuroscience · 2007 · 7 claims · 4 setups

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  The T102C 5-HT2A genotype/allele frequencies were not associated with suicide attempt history or suicide attempt characteristics (lethality, violence) in schizophrenic patients.

  lymphocyte schizophrenic pcr-rflp structured brief

• Comparative genomics of Helicobacter pylori isolates recovered from ulcer disease patients in England.

  PMID 15916705 · PMC1180443 · BMC microbiology · 2005 · 8 claims · 8 setups

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  H. pylori strains from England are genetically distinct from strains obtained from other countries based on virulence gene analysis (cagT, cagE, cagA, vacA, iceA, oipA, babB)

  pylori english pcr sequencing fluorescent

• Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

  PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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  CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

  ebv-transformed genomic father peripheral intracellular snp sequencing

• A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

  PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

  family genomic unrelated gja8 clinical microsatellite sequencing

• Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

  PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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  A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

  family genomic clinical microsatellite direct

• Genomic and phenotypic variation in epidemic-spanning Salmonella enterica serovar Enteritidis isolates.

  PMID 19922635 · PMC2784474 · BMC microbiology · 2009 · 8 claims · 6 setups

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  S. Enteritidis isolates show a high degree of genetic homogeneity/uniformity across typing methods and CGH despite geographic, temporal and source differences.

  enteritidis selected uruguayan caco-2 rapd-pcr pfge comparative

• Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding.

  PMID 19826759 · PMC2815293 · Acta neurochirurgica · 2010 · 6 claims · 2 setups

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  Carriers of the factor XIII subunit B His95Arg polymorphism have an increased risk of aneurysmal SAH

  dutch aneurysmal pcr-based clinical

• Multiplexed genetic analysis using an expanded genetic alphabet.

  PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups

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  MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h

  genomic synthetic subset newborn multicode eracode automated

• Improved weight management using genetic information to personalize a calorie controlled diet.

  PMID 17945020 · PMC2151062 · Nutrition journal · 2007 · 7 claims · 4 setups

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  Personalizing a weight-management diet using nutrigenetic test results improves long-term BMI reduction and weight loss maintenance compared to a standard diet.

  buccal patients serum genotyping case-control fasting

• Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

  PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

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  No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

  peripheral pcr bacteremia pcr-rflp sequencing blood

• Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

  PMID 16923191 · PMC1559722 · Cardiovascular ultrasound · 2006 · 7 claims · 4 setups

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  ecNOS4a/b gene polymorphism is not associated with hypertension in Turkish patients

  genomic hypertensive clinical pcr m-mode pulsed

• Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

  PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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  CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

  amish unrelated same overall microsatellite combinatorial permutation

• 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

• 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