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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EGASP: the human ENCODE Genome Annotation Assessment Project.
PMID 16925836 · PMC1810551 · Genome biology · 2006 · 8 claims · 6 setups
Best-performing computational gene prediction methods correctly predict at least one transcript for close to 70% of annotated genes in the ENCODE regions.
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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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The ENCODE Project at UC Santa Cruz.
PMID 17166863 · PMC1781110 · Nucleic acids research · 2007 · 8 claims · 4 setups
The UCSC ENCODE portal serves as the primary repository and access point for sequence-based ENCODE pilot phase data
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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
The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term
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Has reproduction
Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data.
PMID 35473573 · PMC9044877 · Genome biology · 2022 · 8 claims · 8 setups
Combining multiple enhancer-definition and enhancer-gene link data sources yields 1860 genome-wide EnTDefs covering >500 cell types
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Genomics--from Neanderthals to high-throughput sequencing.
PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups
Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.
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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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Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.
PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups
Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.
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Heterogeneous genomic molecular clocks in primates.
PMID 17029560 · PMC1592237 · PLoS genetics · 2006 · 7 claims · 7 setups
Non-CpG site substitutions show clear generation-time dependency, consistent with a replication-error origin
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Sequence polymorphisms cause many false cis eQTLs.
PMID 17637838 · PMC1906859 · PloS one · 2007 · 8 claims · 7 setups
Many reported local/cis eQTLs are false positives caused by probe-region sequence polymorphisms affecting hybridization rather than true cis-regulatory expression differences.
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Personalized genomic medicine with a patchwork, partially owned genome.
PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups
Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.
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Accurate whole human genome sequencing using reversible terminator chemistry.
PMID 18987734 · PMC2581791 · Nature · 2008 · 8 claims · 7 setups
A novel sequencing platform using fluorescent reversible terminator nucleotides on clonally amplified single-molecule DNA clusters generates several billion bases of accurate sequence per experiment at low cost.
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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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SNPdetector: a software tool for sensitive and accurate SNP detection.
PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups
SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection
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What can genome-wide association studies tell us about the genetics of common disease?
PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups
Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants
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Ensembl 2009.
PMID 19033362 · PMC2686571 · Nucleic acids research · 2009 · 8 claims · 6 setups
Ensembl provides comprehensive, consistently annotated genome information for chordate genomes with automatically generated genesets and comparative genomics data