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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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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L1Base: from functional annotation to prediction of active LINE-1 elements.
PMID 15608246 · PMC539998 · Nucleic acids research · 2005 · 7 claims · 6 setups
L1Base is a database of putatively active LINE-1 insertions in human, mouse and rat genomes, containing FLI-L1s (intact in both ORFs), ORF2-L1s (intact ORF2, disrupted ORF1), and FLnI-L1s (full-length, >6000 bp, non-intact)
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TRED: a Transcriptional Regulatory Element Database and a platform for in silico gene regulation studies.
PMID 15608156 · PMC539958 · Nucleic acids research · 2005 · 8 claims · 5 setups
TRED is a database collecting both cis-regulatory elements (promoters) and trans-regulatory elements (transcription factor binding/regulation data) with linked access.
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Combining comparative genomics with de novo motif discovery to identify human transcription factor DNA-binding motifs.
PMID 17217514 · PMC1780116 · BMC bioinformatics · 2006 · 6 claims · 4 setups
A novel method combining 8-species comparative genomics with de novo motif discovery identifies human TF DNA-binding motifs overrepresented and conserved in upstream regions of co-regulated genes
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GenomeTrafac: a whole genome resource for the detection of transcription factor binding site clusters associated with conventional and microRNA encoding genes conserved between mouse and human gene orthologs.
PMID 17178752 · PMC1781107 · Nucleic acids research · 2007 · 8 claims · 5 setups
GenomeTrafac is a web-accessible database enabling genome-wide detection of conserved cis-element clusters in human-mouse gene orthologs, covering both conventional and microRNA genes
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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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A high throughput method for genome-wide analysis of retroviral integration.
PMID 17028098 · PMC1636494 · Nucleic acids research · 2006 · 8 claims · 8 setups
VITA uses MmeI to cleave DNA at a fixed distance from its recognition site, generating 21-22 bp genomic tags that serve as signatures of lentiviral integration sites.
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EGASP: Introduction.
PMID 16925831 · PMC1810546 · Genome biology · 2006 · 8 claims · 5 setups
Computational gene finding methods, when compared to the GENCODE golden standard annotation, show that the human genome annotation is nearly complete in terms of novel protein-coding loci.
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Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.
PMID 16916449 · PMC1559705 · BMC genomics · 2006 · 8 claims · 5 setups
Genome-wide, both intronic SNPs (iSNPs) and FFD SNPs show a significant excess of A→G over complementary T→C substitutions, confirming prior transcription-coupled repair (TCR) findings from a single chromosome 7 region.
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Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.
PMID 16839184 · PMC1500809 · PLoS genetics · 2006 · 8 claims · 8 setups
Cre/loxP recombination in ES cells can generate megabase-scale deletions, duplications, and inversions depending on loxP orientation, cis/trans configuration, and cell cycle stage
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Genome Network and FANTOM3: assessing the complexity of the transcriptome.
PMID 16683037 · PMC1449904 · PLoS genetics · 2006 · 8 claims · 7 setups
63% of the genome is transcribed from at least one strand, versus the earlier belief that only 2% is transcribed into protein-coding mRNA
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Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
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The Genographic Project public participation mitochondrial DNA database.
PMID 17604454 · PMC1904368 · PLoS genetics · 2007 · 7 claims · 4 setups
The Genographic Project created the largest standardized human mtDNA database to date, comprising 78,590 genotypes from the first 18 months of public participation.
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In silico comparative genomic analysis of GABAA receptor transcriptional regulation.
PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups
Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes
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Simple models of genomic variation in human SNP density.
PMID 17553150 · PMC1919371 · BMC genomics · 2007 · 6 claims · 4 setups
Hierarchical Poisson model B, which allows both the mutation-rate proxy (Beta-distributed Λ) and the ARG-size proxy (Gamma-distributed T) to vary, fits the observed SNP density distribution significantly better than models with only one or neither varying.
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Genome-wide analysis of KAP1 binding suggests autoregulation of KRAB-ZNFs.
PMID 17542650 · PMC1885280 · PLoS genetics · 2007 · 8 claims · 7 setups
H3me3K9 and H3me3K27 mark largely mutually exclusive, distinct classes of transcription factor genes: H3me3K9 at ZNF genes, H3me3K27 at homeobox genes
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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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Mitochondrial diversity within modern human populations.
PMID 17439969 · PMC1888801 · Nucleic acids research · 2007 · 8 claims · 5 setups
Modern humans show extremely low divergence from the mitochondrial consensus sequence, differing on average by only 21.6 nucleotide sites
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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01