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).

• Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.

  PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups

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  Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.

  european-american yoruban japanese case sanger snp linkage

• Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

  PMID 17672902 · PMC1950089 · BMC medical genetics · 2007 · 8 claims · 6 setups

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  The major APOE haplotype (Hap1) is significantly associated with SAH

  caucasian same genomic snp rflp genome

• Whole genome association mapping by incompatibilities and local perfect phylogenies.

  PMID 17042942 · PMC1624851 · BMC bioinformatics · 2006 · 8 claims · 8 setups

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  Blossoc scores the perfect phylogenetic tree spanning the largest compatible region around each marker as a decision tree for case/control status to detect association

  coalescent-simulated artificial empirical same perfect-phylogeny hapminer haplotype

• HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.

  PMID 17117180 · PMC2360759 · British journal of cancer · 2006 · 6 claims · 5 setups

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  Common genetic variation (tSNPs and haplotypes) across the 400-kb 17q21 ERBB2 amplicon is not associated with breast cancer risk in British women.

  white same hapmap snp haplotype tagging

• A common haplotype within the PON1 promoter region is associated with sporadic ALS.

  PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups

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  Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS

  genomic case-control sporadic serum snp allelic sliding-window

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

  PMID 15743496 · PMC1064127 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  A common BRCA1 haplotype (haplotype 2, C A G G) is associated with a modest increase in sporadic breast cancer risk

  individuals nested same nurses whole-gene snp statistical

• Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

  PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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  Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

  french index unaffected mutation-carrier mutation microsatellite haplotype

• Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

  PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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  kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

  germline unaffected index randomly brca1 tyrer-cuzick strp

• The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample.

  PMID 19800201 · PMC2783814 · Schizophrenia research · 2009 · 8 claims · 7 setups

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  Common alleles at DTNBP1 SNPs, particularly rs760761, are associated with schizophrenia in the ICCSS sample

  irish chimpanzee dtnbp1 snp haplotype case

• 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

• ATM variants and cancer risk in breast cancer patients from Southern Finland.

  PMID 16914028 · PMC1592307 · BMC cancer · 2006 · 8 claims · 6 setups

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  Neither 5557G>A nor ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk in any patient group

  familial brca1 same genotype genotyping denaturing direct

• High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies.

  PMID 16834767 · PMC1557740 · Breast cancer research : BCR · 2006 · 8 claims · 5 setups

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  Candidate polymorphism-based genetic epidemiological studies have yielded little success in identifying low-penetrance breast cancer susceptibility genes, largely due to poor genomic coverage and inadequate statistical power.

  breast large-scale candidate single candidate ultra medium-throughput

• 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

• Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

  PMID 18655717 · PMC2515290 · BMC medical genetics · 2008 · 8 claims · 4 setups

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  rs7903146 T allele frequency does not differ significantly between Saudi T2D cases and controls (OR 1.04, 95% CI 0.86-1.27, P=0.675)

  peripheral saudi genotype subset snp case-control haplotype

• Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.

  PMID 18553462 · PMC2630518 · Birth defects research. Part A, Clinical and molecular teratology · 2008 · 7 claims · 3 setups

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  NNMT was identified in a genome-wide linkage scan (Souto et al., 2005) as an important regulator of plasma homocysteine concentration in a Spanish population.

  infants infant same snp case-control haplotype

• Optimal step length EM algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping.

  PMID 12529185 · PMC149347 · BMC bioinformatics · 2003 · 5 claims · 4 setups

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  OSLEM (Optimal Step Length EM), which approximates an optimal step length via a fixed-point search (D_N = D_{N-1} + λ(D_preN - D_{N-1})), runs about twice as fast as standard EM while producing the same haplotype frequency estimates.

  real tailored blood algorithm snp

• Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

  PMID 16091150 · PMC1208870 · BMC cancer · 2005 · 7 claims · 5 setups

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  Three of the five DNA repair genes (MRE11A, RAD50, XRCC4) do not conform to a contiguous haplotype block structure; instead SNPs in high LD can be non-contiguous, fitting a more flexible LD group paradigm

  unrelated same haplotype caucasian snp haplotype group

• Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

  PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.

  taiwanese bpd bess arms multiplex

• Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

  PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups

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  No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.

  genomic ebv-transformed normal direct linkage rt-pcr