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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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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Has reproduction · 91
Insights into the evolution of cotton diploids and polyploids from whole-genome re-sequencing.
PMID 23979935 · PMC3789805 · G3 (Bethesda, Md.) · 2013 · 8 claims · 8 setups
An index of 23,859,893 (~24 million) homoeo-SNPs distinguishing A-genome from D-genome cotton was constructed at a density of one SNP per 32.3 bases of the D5 reference.
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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.
PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups
COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction
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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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Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.
PMID 16916449 · PMC1559705 · BMC genomics · 2006 · 8 claims · 5 setups
Genome-wide, both intronic SNPs (iSNPs) and FFD SNPs show a significant excess of A→G over complementary T→C substitutions, confirming prior transcription-coupled repair (TCR) findings from a single chromosome 7 region.
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Construction of a high-resolution genetic linkage map and comparative genome analysis for the reef-building coral Acropora millepora.
PMID 19900279 · PMC3091320 · Genome biology · 2009 · 8 claims · 6 setups
This is the first genetic linkage map constructed for any coral species or any non-Bilaterian animal
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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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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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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups
Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.
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Environmental genome project: focusing on differences to understand the whole.
PMID 12460813 · PMC1241127 · Environmental health perspectives · 2002 · 8 claims · 4 setups
The EGP has generated a working list of more than 550 environmentally responsive genes involved in pathways such as metabolism, DNA repair, and cell cycle control as candidates for SNP resequencing.
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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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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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Computer-aided identification of polymorphism sets diagnostic for groups of bacterial and viral genetic variants.
PMID 17672919 · PMC1973086 · BMC bioinformatics · 2007 · 6 claims · 8 setups
The Not-N algorithm, incorporated into the Minimum SNPs program, identifies small marker sets diagnostic for user-defined subgroups of genetic variants with 0% false negatives
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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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Sequence variation in the human transcription factor gene POU5F1.
PMID 18254969 · PMC2275747 · BMC genetics · 2008 · 7 claims · 5 setups
POU5F1 is highly polymorphic, with a higher polymorphism density than most genes
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High-throughput molecular analysis in lung cancer: insights into biology and potential clinical applications.
PMID 19648524 · PMC4648268 · The European respiratory journal · 2009 · 8 claims · 8 setups
High-throughput -omics technologies have revolutionised understanding of lung cancer biology and hold promise for personalised management of lung cancer
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The UCSC genome browser database: update 2007.
PMID 17142222 · PMC1669757 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser Database provides sequence and annotation data for 13 vertebrate and 19 invertebrate species as of September 2006.
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Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.
PMID 16091150 · PMC1208870 · BMC cancer · 2005 · 7 claims · 5 setups
Three of the five DNA repair genes (MRE11A, RAD50, XRCC4) do not conform to a contiguous haplotype block structure; instead SNPs in high LD can be non-contiguous, fitting a more flexible LD group paradigm
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Gene losses during human origins.
PMID 16464126 · PMC1361800 · PLoS biology · 2006 · 7 claims · 7 setups
A comparative genomic screen identified 67 new human-specific nonprocessed pseudogenes, bringing the total (with 13 from prior literature) to 80 human-specific pseudogenes.