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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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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Recurrent DNA copy number changes in 1q, 4q, 6q, 9p, 13q, 14q and 22q detected by comparative genomic hybridization in malignant mesothelioma.
PMID 9052404 · PMC2063309 · British journal of cancer · 1997 · 7 claims · 2 setups
This is the first genome-wide screening for DNA sequence gains and losses using CGH in malignant pleural mesothelioma tumours.
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Bias of selection on human copy-number variants.
PMID 16482228 · PMC1366494 · PLoS genetics · 2006 · 8 claims · 8 setups
Human CNVs are significantly overrepresented near telomeres and centromeres and enriched in simple tandem repeats relative to the genome as a whole
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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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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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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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Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.
PMID 18831734 · PMC2566985 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
CHEK2 is present as a single copy in New World monkeys, Old World monkeys, and gibbons
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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CGH-Profiler: data mining based on genomic aberration profiles.
PMID 16042799 · PMC1183191 · BMC bioinformatics · 2005 · 8 claims · 3 setups
CGH-Profiler circumvents ISCN nomenclature by importing CGH data from different vendor systems and converting it into a table format suitable for statistical analysis.
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The use of whole genome amplification to study chromosomal changes in prostate cancer: insights into genome-wide signature of preneoplasia associated with cancer progression.
PMID 16573809 · PMC1450280 · BMC genomics · 2006 · 7 claims · 8 setups
MDA-amplified DNA does not introduce major distortion of copy number imbalance assignments compared to unamplified DNA in control CGH experiments.
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Adaptive history of single copy genes highly expressed in the term human placenta.
PMID 18848617 · PMC2759754 · Genomics · 2009 · 8 claims · 6 setups
222 single copy eutherian genes are highly expressed (>=3x median) in the term human placenta
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Lineage-specific gene duplication and loss in human and great ape evolution.
PMID 15252450 · PMC449870 · PLoS biology · 2004 · 8 claims · 7 setups
Genome-wide interspecies cDNA aCGH can identify lineage-specific gene copy number changes across five hominoid species
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Global variation in copy number in the human genome.
PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups
A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer
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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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Comparative Genomics Provides Insight into the Function of Broad-Host Range Sponge Symbionts.
PMID 34519538 · PMC8546597 · mBio · 2021 · 8 claims · 8 setups
Eleven new genomes were added to the Tethybacterales order and a novel family (Polydorabacteraceae) was identified
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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.
PMID 16420694 · PMC1382255 · BMC bioinformatics · 2006 · 8 claims · 8 setups
SNPscan is a web-accessible tool that displays SNP copy number, genotype call, and LOH p-value data together in a single plot per sample
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Challenges and standards in integrating surveys of structural variation.
PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups
There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.
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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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Malaria research in the post-genomic era.
PMID 18843360 · PMC2705782 · Nature · 2008 · 8 claims · 7 setups
Genome-dependent methods can partially substitute for forward genetic approaches that are unavailable or limited in malaria parasites.