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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No evidence of a Neanderthal contribution to modern human diversity.
PMID 18304371 · PMC2374707 · Genome biology · 2008 · 8 claims · 7 setups
There is no evidence of any Neanderthal contribution to modern human genetic diversity
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Directionality of point mutation and 5-methylcytosine deamination rates in the chimpanzee genome.
PMID 17166280 · PMC1764022 · BMC genomics · 2006 · 8 claims · 6 setups
C→T (G→A) changes occur most frequently among nucleotide substitutions in the chimpanzee genome
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Variation resources at UC Santa Cruz.
PMID 17151077 · PMC1781230 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser variation resources integrate polymorphism data from public collections (dbSNP, HapMap, Affymetrix, Perlegen, SeattleSNPs) into a common format with additional annotations and genomic context.
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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
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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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Distribution and effects of nonsense polymorphisms in human genes.
PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups
Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.
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The dystrobrevin-binding protein 1 gene: features and networks.
PMID 18663367 · PMC2859304 · Molecular psychiatry · 2009 · 8 claims · 6 setups
DTNBP1 gene structure, protein-coding sequence, and dysbindin domain are conserved across 13 vertebrate species, while noncoding sequence is diverse.
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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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The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample.
PMID 19800201 · PMC2783814 · Schizophrenia research · 2009 · 8 claims · 7 setups
Common alleles at DTNBP1 SNPs, particularly rs760761, are associated with schizophrenia in the ICCSS sample
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Evolutionary toggling of the MAPT 17q21.31 inversion region.
PMID 19165922 · PMC2684794 · Nature genetics · 2008 · 8 claims · 6 setups
The H2 (inverted) orientation is the most likely ancestral great ape/human configuration at 17q21.31
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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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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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Complex genetic diseases: controversy over the Croesus code.
PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups
The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.
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Analysis of sequence conservation at nucleotide resolution.
PMID 18166073 · PMC2230682 · PLoS computational biology · 2007 · 8 claims · 4 setups
SCONE (Sequence CONservation Evaluation) is a novel method that estimates evolutionary rate and a neutrality p-value for individual nucleotide positions in a multiple sequence alignment.
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Catalogues of mammalian long noncoding RNAs: modest conservation and incompleteness.
PMID 19895688 · PMC3091318 · Genome biology · 2009 · 8 claims · 6 setups
MacroRNA and lincRNA exons are subject to the same relatively low degree of sequence constraint, contrary to prior reports that lincRNAs are far more conserved
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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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Coxiella burnetii genotyping.
PMID 16102309 · PMC3320512 · Emerging infectious diseases · 2005 · 8 claims · 5 setups
Multispacer sequence typing (MST) is the first reliable method for typing Coxiella burnetii isolates
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Genome analysis of multi- and extensively-drug-resistant tuberculosis from KwaZulu-Natal, South Africa.
PMID 19890396 · PMC2767505 · PloS one · 2009 · 8 claims · 4 setups
Rifampicin resistance (rpoB) and pyrazinamide resistance (pncA) mutations occur at different nucleotide positions in the MDR and XDR strains, showing they were acquired independently and that the XDR strain did not evolve directly from this MDR strain.
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Has reproduction · 85
Ensembl 2013.
PMID 23203987 · PMC3531136 · Nucleic acids research · 2013 · 8 claims · 8 setups
Ensembl (http://www.ensembl.org) provides genome information for sequenced chordate genomes, currently supporting 70 species with a focus on human, mouse, zebrafish and rat.