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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Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.
PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups
NAT2 variants are homogeneously distributed across native populations of the American continent
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FeatureScan: revealing property-dependent similarity of nucleotide sequences.
PMID 16845077 · PMC1538849 · Nucleic acids research · 2006 · 6 claims · 5 setups
FeatureScan transforms nucleotide sequences into numerical signals of physico-chemical/conformational properties and compares them via a convolution/correlation (Fourier transform) method rather than comparing letters
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Differences in the evolutionary history of disease genes affected by dominant or recessive mutations.
PMID 16817963 · PMC1534034 · BMC genomics · 2006 · 8 claims · 8 setups
Dominant disease genes are more conserved at the protein level (mouse orthologues) than recessive disease genes.
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Heterotachy in mammalian promoter evolution.
PMID 16683025 · PMC1449885 · PLoS genetics · 2006 · 8 claims · 5 setups
The rate of promoter evolution relative to control sequences is not consistent between or within mammalian lineages over time (heterotachy)
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Reference based annotation with GeneMapper.
PMID 16600017 · PMC1557983 · Genome biology · 2006 · 7 claims · 6 setups
GeneMapper transfers reference gene annotations to target genomes with higher accuracy than GeneWise and Projector
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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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Inconsistencies in Neanderthal genomic DNA sequences.
PMID 17937503 · PMC2014787 · PLoS genetics · 2007 · 8 claims · 6 setups
The Noonan et al. and Green et al. Neanderthal nuclear DNA datasets yield mutually inconsistent estimates of population split time and Neanderthal admixture proportion when analyzed with the same method
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Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.
PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups
An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution
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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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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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Assessing the gene space in draft genomes.
PMID 19042974 · PMC2615622 · Nucleic acids research · 2009 · 6 claims · 7 setups
The proportion of mapped CEGs in a draft genome assembly is a useful metric for describing gene space completeness, complementing N50 and x-fold coverage.
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Better smelling through genetics: mammalian odor perception.
PMID 18938244 · PMC2590501 · Current opinion in neurobiology · 2008 · 8 claims · 8 setups
Odorant receptor (OR) gene repertoire size and pseudogene fraction vary dramatically across mammalian species
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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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Sex-biased evolutionary forces shape genomic patterns of human diversity.
PMID 18818765 · PMC2538571 · PLoS genetics · 2008 · 7 claims · 5 setups
X-linked diversity is higher than the neutral expectation (0.75) relative to autosomal diversity in all six sampled human populations
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Genetic variation in an individual human exome.
PMID 18704161 · PMC2493042 · PLoS genetics · 2008 · 8 claims · 7 setups
The ~12,500 nonsilent coding variants in the HuRef exome can be reduced ~8-fold to a set of ~1,600 variants most likely to affect protein function.
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Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups
Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.
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Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.
PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups
NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.
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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups
BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing
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Positive selection for the male functionality of a co-retroposed gene in the hominoids.
PMID 19832993 · PMC2773790 · BMC evolutionary biology · 2009 · 8 claims · 8 setups
PIPSL is an extraordinary co-retroposed protein-coding gene that may participate in male-specific functions of humans and close relatives
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Evolution and functional divergence of NLRP genes in mammalian reproductive systems.
PMID 19682372 · PMC2735741 · BMC evolutionary biology · 2009 · 7 claims · 7 setups
Major NLRP genes duplicated before the divergence of mammals, with lineage-specific duplications in primates (NLRP7, NLRP11) and rodents (Nlrp1, Nlrp4, Nlrp9)