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).

• High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.

  PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups

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  Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing

  genomic ecotilling non-synonymous ecotilling sanger universal-primer

• SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.

  PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups

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  Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)

  randomly heirs seattlesnps african resequencing genome-wide tag

• Absence of the TAP2 human recombination hotspot in chimpanzees.

  PMID 15208713 · PMC423135 · PLoS biology · 2004 · 6 claims · 7 setups

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  The human TAP2 recombination hotspot is absent from the homologous region in western chimpanzees.

  western haplotype males simulated resequencing ld-based sperm

• Sequence variation in the human transcription factor gene POU5F1.

  PMID 18254969 · PMC2275747 · BMC genetics · 2008 · 7 claims · 5 setups

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  POU5F1 is highly polymorphic, with a higher polymorphism density than most genes

  genomic multi-species inferred international resequencing comparative haplotype

• The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

  PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups

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  PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs

  sophie mammalian xenopus lymphoblastoid resequencing cellular heterologous

• 6th annual meeting of the Complex Trait Consortium.

  PMID 17906895 · PMC2042027 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 8 claims · 7 setups

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  The NIEHS Perlegen/resequencing project has generated over 8.5 million SNPs from 15 inbred mouse strains but shows a high false-negative discovery rate, with an estimated 45 million SNPs actually present.

  inbred recombinant yeast gallstone genome affymetrix microarray

• Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

  PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups

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  The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.

  crp simplex same serum direct family-based linkage

• 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

• Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.

  PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups

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  No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)

  t1d european warren resequencing database tag

• Multi-INTACT: integrative analysis of the genome, transcriptome, and proteome identifies causal mechanisms of complex traits.

  PMID 39901160 · PMC11789355 · Genome biology · 2025 · 8 claims · 2 setups

  Has reproduction · 86

  Multi-INTACT achieves higher power than existing single-gene-product methods while maintaining calibrated false discovery rates in simulations.

  simulated plasma multi-snp twas

• A network-guided protocol to discover susceptibility genes in genome-wide association studies using stability selection.

  PMID 36609152 · PMC9850185 · STAR protocols · 2023 · 5 claims · 5 setups

  Has reproduction · 92

  The protocol identifies genes that are both statistically associated with a phenotype and functionally interconnected in a biological network

  case-control gene-gene fictional familial snp-phenotype gene-level network-guided

• 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

• Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS.

  PMID 15731331 · PMC549577 · Nucleic acids research · 2005 · 8 claims · 7 setups

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  Multiplexed base-specific cleavage/MALDI-TOF MS (Multiplexed Comparative Sequence Analysis) enables simultaneous discovery of sequence polymorphisms across multiple target regions

  ensembl genomic simulation pcr maldi-tof

• Impact of genomics on animal agriculture and opportunities for animal health.

  PMID 18022262 · PMC7114270 · Trends in biotechnology · 2008 · 8 claims · 7 setups

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  Genomics tools (single-gene tests, SNP chips, genomic selection) will speed genetic improvement of livestock production traits

  cattle chicken pig snp whole-genome transgenic

• A response to Yu et al. "A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array", BMC Bioinformatics 2007, 8: 145.

  PMID 17939873 · PMC2222656 · BMC bioinformatics · 2007 · 8 claims · 4 setups

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  Yu et al.'s original comparison ran RJaCGH's MCMC sampler for a severely insufficient number of iterations (50 burn-in, 500 total)

  simulated same mcmc-based direct original

• Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.

  PMID 17910767 · PMC2148068 · BMC bioinformatics · 2007 · 8 claims · 4 setups

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  Different CNV analysis software packages produce highly variable numbers and types of candidate CNVs from the same data

  normalized individuals subset same affymetrix fluorescent snp

• An integrated genomic analysis of human glioblastoma multiforme.

  PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups

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  IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.

  gbm additional missense exome targeted snp

• Calibrating the performance of SNP arrays for whole-genome association studies.

  PMID 18584036 · PMC2432039 · PLoS genetics · 2008 · 8 claims · 7 setups

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  Previous SNP array genetic coverage estimates are inflated due to SNP overfitting and sample overfitting, since they were evaluated on the same HapMap SNPs/individuals used to design the arrays.

  american liver simulated hapmap snp gene simulation-based

• Analyzing biomarker discovery: Estimating the reproducibility of biomarker sets.

  PMID 35901020 · PMC9333302 · PloS one · 2022 · 7 claims · 3 setups

  Has reproduction · 83

  A Reproducibility Score, RS(D,BD), defined as the average Jaccard overlap between biomarker sets found by the same discovery process on comparable datasets from the same distribution, quantifies biomarker reproducibility on a 0-1 scale

  breast tcga-brca snp gene mrnaseq snp

• Variation resources at UC Santa Cruz.

  PMID 17151077 · PMC1781230 · Nucleic acids research · 2007 · 8 claims · 8 setups

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  The UCSC Genome Browser variation resources integrate polymorphism data from public collections (dbSNP, HapMap, Affymetrix, Perlegen, SeattleSNPs) into a common format with additional annotations and genomic context.

  chimpanzee affymetrix hapmap perlegen snp fixed linkage