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).
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Identification of disease causing loci using an array-based genotyping approach on pooled DNA.
PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups
Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping
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PDA: Pooled DNA analyzer.
PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups
No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests
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Genotyping DNA pools on microarrays: tackling the QTL problem of large samples and large numbers of SNPs.
PMID 15811185 · PMC1079828 · BMC genomics · 2005 · 8 claims · 4 setups
Relative Allele Signal (RAS) values from SNP microarrays provide a quantitative index of allele frequencies in pooled DNA
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Pooled DNA genotyping on Affymetrix SNP genotyping arrays.
PMID 16480507 · PMC1382214 · BMC genomics · 2006 · 7 claims · 4 setups
Pooled genotyping on Affymetrix 10K arrays estimates allele frequency differences between pools with accuracy comparable to lower-throughput pooling platforms.
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Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans.
PMID 16478714 · PMC1368655 · Nucleic acids research · 2006 · 7 claims · 6 setups
SNP-MaP allele frequency estimates from pooled DNA on the 100K microarray set correlate strongly with allele frequencies from individual genotyping
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Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays.
PMID 18276640 · PMC2346606 · Nucleic acids research · 2008 · 8 claims · 5 setups
Illumina HumanHap300 arrays are substantially more efficient than Affymetrix Genechip HindIII arrays for DNA-pooling based GWAS
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Validation of pooled genotyping on the Affymetrix 500 k and SNP6.0 genotyping platforms using the polynomial-based probe-specific correction.
PMID 20003400 · PMC2806376 · BMC genetics · 2009 · 7 claims · 4 setups
Pooled genotyping on the Affymetrix 500k platform using PPC yields highly accurate allele frequency estimates (correlation 0.988) comparable to or better than the 10k/100k platforms.
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Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates.
PMID 16627870 · PMC1440945 · Nucleic acids research · 2006 · 7 claims · 3 setups
A GLMM-based test statistic that models the nested structure of array replicate/strand/probe measurements achieves correct type I error, unlike naive or t-test based statistics.
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Incorporation of genetic model parameters for cost-effective designs of genetic association studies using DNA pooling.
PMID 17634103 · PMC1947971 · BMC genomics · 2007 · 8 claims · 4 setups
A closed-form approximation to the F-test non-centrality parameter (NCP) incorporating genetic model parameters (disease allele frequency, marker allele frequency, prevalence, genotype relative risk, sample size, genetic model, number of pools/replicates, machine variability) can be used to compute power for DNA pooling association studies
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Allelotyping of pooled DNA with 250 K SNP microarrays.
PMID 17367522 · PMC1839100 · BMC genomics · 2007 · 8 claims · 5 setups
The polynomial based probe specific correction (PPC) algorithm is the most accurate method for estimating allele frequency from pooled DNA.
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Applicability of DNA pools on 500 K SNP microarrays for cost-effective initial screens in genomewide association studies.
PMID 17610740 · PMC1925094 · BMC genomics · 2007 · 8 claims · 5 setups
SNP-MaP can be effectively applied to the Affymetrix 500K GeneChip, providing a cost-effective, reliable and valid initial genomewide screen
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A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.
PMID 20012890 · PMC2797846 · Behavior genetics · 2010 · 6 claims · 4 setups
SNP Microarrays and Pooling (SNP-MaP) is a valid economical method for genome-wide screening of quantitative trait extremes using pooled DNA on microarrays
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Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.
PMID 15850495 · PMC1090572 · BMC genetics · 2005 · 8 claims · 6 setups
Haplotype block definitions based on LD measures (Definitions 1, 2, 3, 5) produce fewer, shorter blocks with limited sequence coverage compared to the haplotype diversity-based method (Definition 4)
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Chips to hits.
PMID 11983055 · PMC139346 · Genome biology · 2002 · 8 claims · 8 setups
Illumina's fiber-optic bead array technology allows ~2,000 oligonucleotide-based assays per bead array for high-throughput genotyping
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SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.
PMID 16262895 · PMC1280925 · BMC genomics · 2005 · 8 claims · 5 setups
Poorly performing SNPs (NoCall rate ≥25%) fail primarily due to inadequate training/localization of the MPAM statistical model call zone, not detection filter failure
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PPC: an algorithm for accurate estimation of SNP allele frequencies in small equimolar pools of DNA using data from high density microarrays.
PMID 16199750 · PMC1240117 · Nucleic acids research · 2005 · 7 claims · 6 setups
The PPC algorithm, which applies a probe-pair-specific second-degree polynomial correction, increases the accuracy of allele frequency estimates from pooled DNA compared with previously described algorithms
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
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.
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups
A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3
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Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.
PMID 18784189 · PMC2577347 · Nucleic acids research · 2008 · 8 claims · 6 setups
Genomic waves are present in both Illumina and Affymetrix SNP genotyping arrays, confirming they are not platform-specific
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Characterizing natural variation using next-generation sequencing technologies.
PMID 19801172 · PMC3994700 · Trends in genetics : TIG · 2009 · 8 claims · 8 setups
Next-generation sequencing enables complete, genome-wide surveys of genetic variation at unprecedented resolution, overcoming limitations of genotyping panels and microarrays.