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).

• Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

  PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

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  None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

  genomic case-control nramp1 type sanger snp microsatellite

• Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

  PMID 18334955 · PMC2268852 · Molecular vision · 2008 · 7 claims · 4 setups

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  MFRP mutations were previously reported to cause nanophthalmos and a distinct microphthalmos/retinitis pigmentosa/foveoschisis syndrome, motivating it as a candidate gene for axial length regulation

  genomic multiplex direct pcr taqman

• Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

  PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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  Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

  family additional unrelated mutant direct linkage targeted

• Detecting natural selection by empirical comparison to random regions of the genome.

  PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups

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  Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection

  ceu genomic simulated long-read snp population

• 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

• Variation in the Neisseria lactamica porin, and its relationship to meningococcal PorB.

  PMID 18451061 · PMC2885628 · Microbiology (Reading, England) · 2008 · 8 claims · 6 setups

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  N. lactamica por is less diverse than meningococcal porB2 and porB3

  lactamica unique pcr distance-based population

• Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G.

  PMID 15269786 · PMC479043 · PLoS biology · 2004 · 7 claims · 6 setups

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  APOBEC3G has been under strong, recurrent positive selection throughout primate evolution (~33 million years)

  apobec3g pairwise human-chimpanzee apobec1 pcr phylogenetic sliding

• Global genetic diversity of human metapneumovirus fusion gene.

  PMID 15207075 · PMC3323143 · Emerging infectious diseases · 2004 · 8 claims · 6 setups

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  Phylogenetic analysis of the HMPV F gene identifies two main groups (A and B, 93%-96% amino acid identity) further divided into four subgroups (A1, A2, B1, B2)

  hmpv llc-mk2 clinical rt-pcr sequence phylogenetic

• Molecular epidemiology of DFNB1 deafness in France.

  PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

  gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc

• Eighth major clade for hepatitis delta virus.

  PMID 17073101 · PMC3294742 · Emerging infectious diseases · 2006 · 7 claims · 7 setups

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  Three HDV isolates (dFr644, dFr2072, dFr2736) form a monophyletic group distinct from HDV-1 through HDV-7, constituting a new eighth major clade (HDV-8) of the Deltavirus genus.

  serum-derived complete same shd rt-pcr sequence phylogenetic

• Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

  PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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  A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

  genomic same chx10 pacg pcr case-control cross-species

• Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.

  PMID 19888326 · PMC2765618 · PloS one · 2009 · 7 claims · 4 setups

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  The frequency of SAA1 alpha/alpha homozygotes is much higher among Armenian FMF patients (24%) than Karabakhian FMF patients (4%)

  genomic population simulated pcr pearson monte

• Coxiella burnetii genotyping.

  PMID 16102309 · PMC3320512 · Emerging infectious diseases · 2005 · 8 claims · 5 setups

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  Multispacer sequence typing (MST) is the first reliable method for typing Coxiella burnetii isolates

  coxiella burnetii matrix sequence pcr molecular pcr-based

• 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

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  Marginally significant (uncorrected) transmission distortion was found for four SNPs after stratification by HLA-DRB1*1501 status, disease course, or gender.

  pooled australian independent trio pool snapshot snplex

• Association of Escherichia coli O157:H7 tir polymorphisms with human infection.

  PMID 17718910 · PMC2063500 · BMC infectious diseases · 2007 · 8 claims · 6 setups

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  tir polymorphisms 255 T>A and RR1-RU3 (presence/absence) associate strongly with human vs bovine isolate source

  stec pcr multiplex elisa

• Genetic diversity of vaccine candidate antigens in Plasmodium falciparum isolates from the Amazon basin of Peru.

  PMID 18505558 · PMC2432069 · Malaria journal · 2008 · 8 claims · 7 setups

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  CSP (Th2R/Th3R region) is polymorphic in Peruvian isolates, with four distinct alleles identified, none identical to the 3D7 vaccine strain

  pfcsp pfmsp-1 pfama-1 pflsa-1 pcr polymorphism multilocus

• Ethnic differences and functional analysis of MET mutations in lung cancer.

  PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups

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  MET mutations identified in lung tumors are predominantly germline rather than somatic

  tumor established recombinant cos-7 pcr elisa-based apoptosis

• Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

  PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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  A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

  genomic basotho pcr restriction secondary

• HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

  PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups

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  HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals

  genomic ihwg peripheral allele sequence-based pcr sbt

• Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.

  PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups

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  SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans

  african snp sequencing admixture