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).

• SNPs in cancer research and treatment.

  PMID 14970847 · PMC2410167 · British journal of cancer · 2004 · 8 claims · 8 setups

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  SNPs and haplotype-tagging SNPs (ht-SNPs) provide a resource for investigating genetic contributions to cancer susceptibility and outcome while reducing genotyping burden versus testing every SNP

  lung bladder colon prostate candidate snp-based haplotype

• Selecting additional tag SNPs for tolerating missing data in genotyping.

  PMID 16259642 · PMC1316880 · BMC bioinformatics · 2005 · 7 claims · 6 setups

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  There exists a subset of SNPs (robust tag SNPs) that can distinguish all distinct haplotypes even when up to m SNPs are missing

  simulated hudson's chromosome robust

• Molecular haplotyping by linking emulsion PCR: analysis of paraoxonase 1 haplotypes and phenotypes.

  PMID 15886392 · PMC1092276 · Nucleic acids research · 2005 · 7 claims · 4 setups

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  LE-PCR (linking PCR combined with emulsion PCR) enables molecular determination of haplotypes at two linked polymorphic loci without specialized instrumentation beyond real-time PCR

  leukocyte capped genomic plasma linking quantitative emulsion

• Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

  PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups

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  The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.

  blood same genotype hla microsatellite haplotype

• 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

• 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

• A model-based approach to selection of tag SNPs.

  PMID 16776821 · PMC1525207 · BMC bioinformatics · 2006 · 7 claims · 5 setups

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  The Li and Stephens hidden Markov model outperforms other tested models (simple Markov, two-state HMM, HMM-4D, greedy GR-1/GR-2) in description code-length, tag set information content, and prediction of tagged SNPs.

  hapmap encode enr112 tag cross-validated entropy tagged

• Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

  PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups

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  PITX1 polymorphisms and haplotypes are significantly associated with autism

  agre pitx1 parental family-based extended haplotype

• Efficacy assessment of SNP sets for genome-wide disease association studies.

  PMID 17726055 · PMC2034459 · Nucleic acids research · 2007 · 6 claims · 4 setups

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  τ, derived from Shannon entropy and swept radius ɛ, approximates the relative sample size efficiency of a marker set for mapping a causal variant at a given map position compared to a maximally polymorphic SNP

  hapmap affymetrix illumina genome-wide swept comparative

• 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

• Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

  PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups

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  No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution

  blood-derived genomic chromosomes rho whole-locus pcr haplotype

• 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

• Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.

  PMID 18193213 · PMC2206249 · Immunogenetics · 2008 · 8 claims · 6 setups

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  Comparison of eight HLA-homozygous MHC haplotype sequences identified >44,000 variations (substitutions and indels), submitted to dbSNP

  hla-homozygous same mhc indel clone-by-clone gene hla

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative

• Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia.

  PMID 19922672 · PMC2789746 · Malaria journal · 2009 · 8 claims · 8 setups

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  Two distinctive COI haplotype groups were consistently detected, corresponding to the Caribbean and Pacific regions.

  anopheles mtdna microsatellite population

• The genome sequence of the Chalk Yellow-face Bee, Hylaeus dilatatus (Kirby, 1802) (Hymenoptera: Colletidae).

  PMID 41657665 · PMC12881847 · Wellcome open research · 2026 · 8 claims · 8 setups

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  A two-haplotype genome assembly of Hylaeus dilatatus was produced, with total lengths of 307.38 Mb (haplotype 1) and 314.32 Mb (haplotype 2)

  hylaeus pacbio assembled barcoding pacbio hi-c

• Virus variant quantification with Orthanq.

  PMID 41639627 · PMC12930645 · BMC bioinformatics · 2026 · 8 claims · 6 setups

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  Orthanq performs identification and uncertainty-aware quantification of known virus variants of any virus species, including in samples with mixed infections

  simulated real mixture sequencing sequencing-based pangenome variant

• Software for tag single nucleotide polymorphism selection.

  PMID 16004730 · PMC3525260 · Human genomics · 2005 · 8 claims · 3 setups

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  Pairwise R2 methods tend to pick more tagging SNPs than strictly needed because they miss redundancy where two or more tag SNPs jointly predict an untagged SNP with no single direct surrogate.

  tgfbr1 encode candidate tag haplotype

• Analyses and comparison of accuracy of different genotype imputation methods.

  PMID 18958166 · PMC2569208 · PloS one · 2008 · 8 claims · 3 setups

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  Stronger LD produces higher imputation accuracy rates for all five methods

  simulated real linux genotype computational

• 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