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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Genotypic analysis of two hypervariable human cytomegalovirus genes.
PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups
UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.
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Understanding incidental findings in the context of genetics and genomics.
PMID 18547195 · PMC2581745 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 3 setups
No consensus exists on researchers' responsibilities to disclose individual genetic/genomic research results to participants.
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Has reproduction · 55
Genome-Wide Survey and Development of the First Microsatellite Markers Database (AnCorDB) in Anemone coronaria L.
PMID 35328546 · PMC8949970 · International journal of molecular sciences · 2022 · 8 claims · 8 setups
Generated the first draft genome assembly of A. coronaria by Illumina sequencing a haploid androgenetic plant
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The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.
PMID 16733552 · PMC1464830 · PLoS genetics · 2006 · 8 claims · 7 setups
Human and chimp genomes differ by ~35 million single nucleotide substitutions, corresponding to ~1.06% divergence after removing polymorphic sites
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Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.
PMID 19671847 · PMC2892178 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 5 setups
Genomic profiling by aCGH can distinguish clonal tumors from independent primaries with high confidence by identifying matching versus non-matching regions of allelic gain/loss.
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Pathogenesis of vestibular schwannoma in ring chromosome 22.
PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups
Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)
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Has reproduction · 88
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups
A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).
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Genome comparison without alignment using shortest unique substrings.
PMID 15910684 · PMC1166540 · BMC bioinformatics · 2005 · 8 claims · 8 setups
A number of sequence comparison tasks, including detection of unique genomic regions, can be accomplished efficiently without an alignment step using shortest unique substrings.
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Diversity of tRNA genes in eukaryotes.
PMID 17088292 · PMC1693877 · Nucleic acids research · 2006 · 8 claims · 6 setups
The number of tRNA genes having the same anticodon but different sequences elsewhere (isodecoder genes) varies significantly (10–246) across 11 eukaryotes despite isoacceptor numbers being similar (41–55)
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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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Comprehensive genome analysis of 203 genomes provides structural genomics with new insights into protein family space.
PMID 16481312 · PMC1373602 · Nucleic acids research · 2006 · 8 claims · 7 setups
The number of protein families continues to expand steadily as more genomes are sequenced, showing no sign of saturation.
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The relationship of potential G-quadruplex sequences in cis-upstream regions of the human genome to SP1-binding elements.
PMID 18353860 · PMC2377421 · Nucleic acids research · 2008 · 7 claims · 1 setups
A large number of upstream PQSSs incorporate the SP1-binding element, establishing a clear link between PQSS occurrence and SP1 elements
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Twin peaks: the draft human genome sequence.
PMID 11276423 · PMC138909 · Genome biology · 2001 · 8 claims · 8 setups
The predicted number of human genes (~26,000-40,000) is far lower than the widely assumed ~100,000, though downstream RNA/protein complexity can still generate substantial biological complexity.
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Gene duplication: the genomic trade in spare parts.
PMID 15252449 · PMC449868 · PLoS biology · 2004 · 8 claims · 7 setups
Gene duplication relaxes selective constraint on one copy, allowing exploration of evolutionary space that is otherwise forbidden in single-copy genes, making duplication the major opportunity for new gene function evolution.
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Widespread ultraconservation divergence in primates.
PMID 18492662 · PMC2464743 · Molecular biology and evolution · 2008 · 8 claims · 4 setups
The number of UCEs has decreased throughout primate evolution, from ~1,000 in ancestral primates to 635 in modern humans.
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Personalized copy number and segmental duplication maps using next-generation sequencing.
PMID 19718026 · PMC2875196 · Nature genetics · 2009 · 5 claims · 5 setups
mrFAST maps short reads to all possible locations in the reference genome, enabling read-depth-based prediction of absolute copy number in both unique and duplicated sequence, including discrimination between highly identical gene paralogs.
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Ensembl 2007.
PMID 17148474 · PMC1761443 · Nucleic acids research · 2007 · 8 claims · 7 setups
Ensembl added 18 new chordate genomes this year, increasing total genomes available from 15 to 33, the largest yearly increase to date.
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The vertebrate genome annotation (Vega) database.
PMID 18003653 · PMC2238886 · Nucleic acids research · 2008 · 8 claims · 8 setups
Vega is a database for viewing manual genome annotation of human, mouse and zebrafish genomic sequences produced at the Wellcome Trust Sanger Institute.
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Has reproduction · 75
Stage-stratified molecular profiling of non-muscle-invasive bladder cancer enhances biological, clinical, and therapeutic insight.
PMID 35028613 · PMC8714941 · Cell reports. Medicine · 2021 · 8 claims · 5 setups
Stage-stratified molecular subclassification of Ta and T1 tumors provides greater biological understanding and more clinically meaningful information than subtypes derived from all NMIBCs combined.
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A critical reassessment of the role of mitochondria in tumorigenesis.
PMID 16187796 · PMC1240051 · PLoS medicine · 2005 · 8 claims · 8 setups
A significant number of published medical mtDNA cancer studies are based on obviously flawed sequencing results.