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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Rapid identification of PAX2/5/8 direct downstream targets in the otic vesicle by combinatorial use of bioinformatics tools.
PMID 18828907 · PMC2760872 · Genome biology · 2008 · 8 claims · 8 setups
A combinatorial bioinformatics pipeline (evolutionary double filtering comparative genomics, GXD/ZFIN database queries, MEDLINE text mining) can rapidly and specifically identify PAX2/5/8 direct downstream targets in the otic vesicle
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Short tandem repeats in human exons: a target for disease mutations.
PMID 18789129 · PMC2543027 · BMC genomics · 2008 · 8 claims · 6 setups
STRs are present in exons of 92% of known human genes, unlike longer tandem repeats which are rare in exons
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Isolated populations and complex disease gene identification.
PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups
Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.
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Biodefense versus bioterrorism.
PMID 18771576 · PMC2575524 · Genome biology · 2008 · 5 claims · 4 setups
Whole-genome sequencing and comparative genomics of the attack strain were used to trace the anthrax letters to a specific laboratory flask
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups
40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD
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Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation.
PMID 18722178 · PMC3003864 · Molecular cell · 2008 · 7 claims · 8 setups
RBP2 target promoters separate into two functionally distinct classes: differentiation-independent genes (mitochondrial function, RNA/DNA metabolism) and differentiation-dependent genes (cell cycle)
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Complete genome of Phenylobacterium zucineum--a novel facultative intracellular bacterium isolated from human erythroleukemia cell line K562.
PMID 18700039 · PMC2529317 · BMC genomics · 2008 · 8 claims · 6 setups
Complete genome of P. zucineum HLK1T consists of a 3,996,255 bp circular chromosome and a 382,976 bp circular plasmid encoding 3,861 proteins, 42 tRNAs, and one 16S-23S-5S rRNA operon
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Genetics of bipolar disorder.
PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups
BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations
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Genome-wide identification of in vivo protein-DNA binding sites from ChIP-Seq data.
PMID 18684996 · PMC2532738 · Nucleic acids research · 2008 · 8 claims · 7 setups
SISSRs identifies binding sites from ChIP-Seq short reads with much higher resolution than the standard region-clustering approach
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Kinetoplastid genomics: the thin end of the wedge.
PMID 18675383 · PMC2676795 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2008 · 8 claims · 8 setups
Completion of the T. brucei, T. cruzi, and L. major genome sequencing projects enabled numerous studies that would otherwise have been difficult or impossible.
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Human QTL linkage mapping.
PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups
Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels
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PRESTO: rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies.
PMID 18620604 · PMC2483288 · BMC bioinformatics · 2008 · 8 claims · 4 setups
PRESTO is an order of magnitude faster than other existing permutation testing software for genetic association studies.
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Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups
A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation
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Sequencing the regulatory genome.
PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups
Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Ordered subsets linkage analysis of antisocial behavior in substance use disorder among participants in the Collaborative Study on the Genetics of Alcoholism.
PMID 18496835 · PMC4248599 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
Prior to OSA, modest evidence for linkage to SUD was found on chromosomes 8 and 17.
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High-resolution mapping of transcriptional dynamics across tissue development reveals a stable mRNA-tRNA interface.
PMID 25122613 · PMC4216921 · Genome research · 2014 · 8 claims · 7 setups
mRNA codon and amino acid pools are highly stable across mouse development and across tissues, simply reflecting the genomic background distribution of any possible transcriptome.
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Has reproduction · 50
Genome-wide identification of Hfq-regulated small RNAs in the fire blight pathogen Erwinia amylovora discovered small RNAs with virulence regulatory function.
PMID 24885615 · PMC4070566 · BMC genomics · 2014 · 8 claims · 8 setups
A total of 40 candidate Hfq-dependent sRNAs were identified genome-wide in E. amylovora by combining RNA-seq with a Rho-independent terminator search.