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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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
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.
PMID 19907653 · PMC2771352 · PloS one · 2009 · 8 claims · 7 setups
IL10 haplotype 1 (rs1800871, rs1800872, rs3024490, rs1554286) is associated with a pro-inflammatory ex vivo cytokine response (lower IL-10, higher TNF-alpha) relative to the population mean
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Software for tag single nucleotide polymorphism selection.
PMID 16004730 · PMC3525260 · Human genomics · 2005 · 8 claims · 3 setups
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.
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Supervised learning-based tagSNP selection for genome-wide disease classifications.
PMID 18366619 · PMC2386071 · BMC genomics · 2008 · 7 claims · 2 setups
SRFA (Supervised Recursive Feature Addition) is a novel feature selection method combining supervised learning and statistical redundancy measures for SNP selection
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SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management.
PMID 15774022 · PMC1274256 · BMC bioinformatics · 2005 · 7 claims · 3 setups
SNPHunter allows ad hoc-mode and batch-mode SNP search, automatic SNP filtering, and retrieval of SNP data (physical position, function class, flanking sequences at user-defined lengths, heterozygosity) from NCBI dbSNP
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Evolutionary algorithms for the selection of single nucleotide polymorphisms.
PMID 12875658 · PMC183839 · BMC bioinformatics · 2003 · 8 claims · 3 setups
Evolutionary algorithms are well suited to multiobjective optimization problems with large, intractable search spaces such as SNP selection, unlike exact methods (exhaustive enumeration) or single-objective search techniques (tabu search, simulated annealing).
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Selecting additional tag SNPs for tolerating missing data in genotyping.
PMID 16259642 · PMC1316880 · BMC bioinformatics · 2005 · 7 claims · 6 setups
There exists a subset of SNPs (robust tag SNPs) that can distinguish all distinct haplotypes even when up to m SNPs are missing
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An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.
PMID 16532062 · PMC1391920 · PLoS genetics · 2006 · 8 claims · 5 setups
CEU HapMap-derived tSNPs capture most of the genetic variation observed in the Estonian (EGP) population sample
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Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.
PMID 17900373 · PMC2082241 · BMC dermatology · 2007 · 8 claims · 4 setups
This is the first SNP-based genome-wide linkage study of atopic dermatitis performed in an Asian population.
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A model-based approach to selection of tag SNPs.
PMID 16776821 · PMC1525207 · BMC bioinformatics · 2006 · 7 claims · 5 setups
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.
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Sequence variation in the human transcription factor gene POU5F1.
PMID 18254969 · PMC2275747 · BMC genetics · 2008 · 7 claims · 5 setups
POU5F1 is highly polymorphic, with a higher polymorphism density than most genes
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QuickSNP: an automated web server for selection of tagSNPs.
PMID 17517769 · PMC1933212 · Nucleic acids research · 2007 · 7 claims · 3 setups
QuickSNP is a freely available automated web server for selecting tagSNPs from a chromosomal region, genes within a region, or a specified gene list, with a gene-centric selection option
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Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.
PMID 18212765 · PMC7116808 · Nature clinical practice. Endocrinology & metabolism · 2008 · 8 claims · 8 setups
Six high-density genome-wide association studies in over 19,000 individuals identified approximately ten T2D-susceptibility loci, including HHEX, IDE, SLC30A8, FTO, CDKAL1, CDKN2A/CDKN2B, and IGF2BP2.
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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.
PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups
Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.
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Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.
PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups
SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Tri-nucleotide threading for parallel amplification of minute amounts of genomic DNA.
PMID 16582098 · PMC1421508 · Nucleic acids research · 2006 · 6 claims · 5 setups
TnT enables parallel amplification of 75 SNPs from sub-nanogram amounts of genomic DNA
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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
Common genetic variation (tSNPs and haplotypes) across the 400-kb 17q21 ERBB2 amplicon is not associated with breast cancer risk in British women.
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An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25.
PMID 18302794 · PMC2292209 · BMC genetics · 2008 · 7 claims · 5 setups
Among the four HapMap populations, CHB shows the best correlation with the Shanghai population on allele frequencies, LD, and haplotype frequencies