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).

Publications 1.3k Datasets 392.5k Experiments 15

System / cell line: hapmap ✕ Assay: minor ✕ Clear

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

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Among the four HapMap populations, CHB shows the best correlation with the Shanghai population on allele frequencies, LD, and haplotype frequencies

unrelated shanghai tsnps snp allele linkage
Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups

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EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women

international spyw candidate haplotype population
Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.

PMID 16680197 · PMC1456318 · PLoS genetics · 2006 · 7 claims · 7 setups

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SNPs in the Affymetrix 100K set are undersampled from coding regions (both synonymous and nonsynonymous) and oversampled from regions outside genes, relative to HapMap SNPs

genome autosomal hapmap chromosome snp chromosomal minor
Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?

PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups

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The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term

populations genome genome-wide genome
A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.

PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups

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Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.

individuals sequence resequencing snps targeted sequence genotype
Human SNPs resulting in premature stop codons and protein truncation.

PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups

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Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.

genome transcripts validated x-snp-encoded database blast exon-intron
A pharmacogene database enhanced by the 1000 Genomes Project.

PMID 19745786 · PMC2935084 · Pharmacogenetics and genomics · 2009 · 7 claims · 4 setups

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The database provides a convenient portal for immediate utilization of newly released 1000 Genomes Project (KGP) data in pharmacogenetic studies

ceu hapmap lymphoblastoid genotype-phenotype whole-genome low-coverage
SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes.

PMID 16845091 · PMC1538889 · Nucleic acids research · 2006 · 8 claims · 4 setups

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SNPmasker is a web service combining SNP masking and repeat masking, supporting both coordinate-defined and homology-search-defined input regions, a combination not offered by prior tools

genome reference genomic runtime sequence comparative
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

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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

genomic commercial plco unrelated targeted long-range genotyping
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
Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.

PMID 17562002 · PMC1914356 · BMC genomics · 2007 · 8 claims · 5 setups

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Commercial SNP panels provide levels of coverage in a non-reference Caucasian (Estonian) population similar to those seen in the HapMap CEPH (CEU) population sample

estonian hapmap ceu snp tagsnp marker
Investigating the genetic association between ERAP1 and ankylosing spondylitis.

PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups

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The genetic association between ERAP1 and AS is confirmed in an independent replication cohort

patients cases genotype comparison snp meta-analysis resequencing
What can genome-wide association studies tell us about the genetics of common disease?

PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups

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Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants

case gwa simulated literature cochran-armitage computer
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

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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

population blood genomic hapmap snp survival allele
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans

talana volunteers same ogliastra genome-wide clinical genotype

Experiments

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.

Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.

Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?

A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.

Human SNPs resulting in premature stop codons and protein truncation.

A pharmacogene database enhanced by the 1000 Genomes Project.

SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes.

Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.

Bayesian estimates of linkage disequilibrium.

Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.

Investigating the genetic association between ERAP1 and ankylosing spondylitis.

What can genome-wide association studies tell us about the genetics of common disease?

Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.