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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Comparative analysis of genome tiling array data reveals many novel primate-specific functional RNAs in human.
PMID 17288572 · PMC1796608 · BMC evolutionary biology · 2007 · 8 claims · 6 setups
Widespread transcription occurs across the human genome outside known gene annotations, and the bulk of TARs represent genuine transcripts rather than experimental artifacts
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Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.
PMID 18257913 · PMC2374708 · Genome biology · 2008 · 8 claims · 7 setups
The macaque marker order on chromosome 17 represents the ancestral hominoid/mammalian organization
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A combination of genomic approaches reveals the role of FOXO1a in regulating an oxidative stress response pathway.
PMID 18301748 · PMC2244703 · PloS one · 2008 · 8 claims · 7 setups
FOXO1a mRNA and protein expression are elevated in human liver compared to chimpanzee liver
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The evolution and genomic landscape of CGB1 and CGB2 genes.
PMID 17055150 · PMC2599907 · Molecular and cellular endocrinology · 2007 · 8 claims · 5 setups
CGB1 and CGB2 arose via insertion of a DNA fragment (736/724 bp) replacing part of the ancestral hCGβ promoter and 5'-UTR, creating a novel exon 1 and causing a frameshift that produces a completely different 132-aa protein unrelated to hCGβ
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Highly individual methylation patterns of alternative glucocorticoid receptor promoters suggest individualized epigenetic regulatory mechanisms.
PMID 19004867 · PMC2602793 · Nucleic acids research · 2008 · 7 claims · 4 setups
Methylation patterns of the five GR promoters activated in PBMCs are highly variable between individuals.
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Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates.
PMID 19906729 · PMC2808989 · Nucleic acids research · 2010 · 8 claims · 6 setups
Patrocles is a database compiling DSPs predicted to perturb miRNA-mediated gene regulation across seven vertebrate species, covering targets, miRNA precursors and silencing machinery.
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Automated recognition of retroviral sequences in genomic data--RetroTector.
PMID 17636050 · PMC1976444 · Nucleic acids research · 2007 · 8 claims · 8 setups
RetroTector uses 'fragment threading' (detection of chains of conserved retroviral motifs satisfying distance constraints) combined with LTR detection and protein reconstruction to identify ERVs in genomic sequences
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The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements.
PMID 18699995 · PMC2542386 · BMC genomics · 2008 · 8 claims · 5 setups
Some relatively recent (young) SDs accumulate in regions homologous to chromosomal inversions that occurred in the sister lineage
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Effect of the assignment of ancestral CpG state on the estimation of nucleotide substitution rates in mammals.
PMID 18826599 · PMC2576242 · BMC evolutionary biology · 2008 · 7 claims · 4 setups
CpG/non-CpG assignment based on presence/absence of a CpG dinucleotide seriously biases substitution rate estimates, overestimating CpG changes and underestimating non-CpG changes.
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Genome assembly comparison identifies structural variants in the human genome.
PMID 17115057 · PMC2674632 · Nature genetics · 2006 · 7 claims · 7 setups
Genome assembly comparison is a robust approach for identifying all classes of genetic variation, with no lower size limit.
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Comparative genomics and experimental promoter analysis reveal functional liver-specific elements in mammalian hepatic lipase genes.
PMID 17428321 · PMC1853088 · BMC genomics · 2007 · 8 claims · 7 setups
Cis-regulatory elements responsible for liver-specific HL expression are conserved among mammalian HL genes
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A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression.
PMID 19942684 · PMC2817474 · Nucleic acids research · 2010 · 8 claims · 7 setups
Exogenous RPA4 expression does not support chromosomal DNA replication and causes cell-cycle arrest in G2/M
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Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.
PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups
A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.
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Continued colonization of the human genome by mitochondrial DNA.
PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups
NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.
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Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).
PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups
The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species
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Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups
The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups
A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys