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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Increased constraints on MC4R during primate and human evolution.
PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups
There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.
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PALB2 variants in hereditary and unselected Finnish prostate cancer cases.
PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups
None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland
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Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements.
PMID 17855397 · PMC2094090 · Nucleic acids research · 2007 · 8 claims · 5 setups
A new weighted formula that accounts for the number of methylated CpG sites per fragment removes the bias of the original MassCLEAVE™ formula toward higher apparent methylation in fragments with more CpG sites.
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GenomeTrafac: a whole genome resource for the detection of transcription factor binding site clusters associated with conventional and microRNA encoding genes conserved between mouse and human gene orthologs.
PMID 17178752 · PMC1781107 · Nucleic acids research · 2007 · 8 claims · 5 setups
GenomeTrafac is a web-accessible database enabling genome-wide detection of conserved cis-element clusters in human-mouse gene orthologs, covering both conventional and microRNA genes
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Has reproduction
Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.
PMID 33304461 · PMC7710658 · Computational and structural biotechnology journal · 2020 · 7 claims · 6 setups
Expression stability in CHO cell lines is controlled at three levels: choice of integration site, integrity/concatemerization pattern of the transgene, and stress-related cellular processes.
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Linking disease-associated genes to regulatory networks via promoter organization.
PMID 15701758 · PMC549397 · Nucleic acids research · 2005 · 8 claims · 7 setups
Pairs of TFBSs conserved both vertically (orthologous genes) and horizontally (co-regulated genes) can serve as seeds to build promoter models representing potential co-regulation networks
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EGASP: Introduction.
PMID 16925831 · PMC1810546 · Genome biology · 2006 · 8 claims · 5 setups
Computational gene finding methods, when compared to the GENCODE golden standard annotation, show that the human genome annotation is nearly complete in terms of novel protein-coding loci.
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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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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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HITS-CLIP yields genome-wide insights into brain alternative RNA processing.
PMID 18978773 · PMC2597294 · Nature · 2008 · 8 claims · 8 setups
HITS-CLIP, combining CLIP with high-throughput sequencing, provides a genome-wide, unbiased method to map protein-RNA interactions in vivo.
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.
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Toward stem cell systems biology: from molecules to networks and landscapes.
PMID 19329576 · PMC2738746 · Cold Spring Harbor symposia on quantitative biology · 2008 · 7 claims · 6 setups
Stem-cell-fate specification is an extremely complex process regulated by multiple mutually interacting molecular mechanisms with numerous regulatory feedback loops.
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DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
PMID 15608249 · PMC539965 · Nucleic acids research · 2005 · 5 claims · 8 setups
Comparative human-mouse genome analysis identifies conserved sequence tags (CSTs, >=70% identity over >=100bp) that frequently correspond to non-coding elements with putative regulatory or structural roles
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Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.
PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups
CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form
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SysZNF: the C2H2 zinc finger gene database.
PMID 18974185 · PMC2686507 · Nucleic acids research · 2009 · 7 claims · 6 setups
SysZNF is a database that systematically catalogs C2H2-ZNF genes in human and mouse with physical location, gene models, expression probes, protein domains, homologs, and literature links
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An integrated genomic analysis of human glioblastoma multiforme.
PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.
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Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing.
PMID 31443728 · PMC6708158 · Genome medicine · 2019 · 8 claims · 6 setups
The proportion of variance in chronological age explained by all DNA methylation probes is close to 1, so a near-perfect age predictor is in principle achievable with sufficient training data.
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The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.
PMID 16859552 · PMC1538596 · BMC genomics · 2006 · 7 claims · 7 setups
Numts co-amplified with mtDNA during PCR generate false heteroplasmic signals at specific nucleotide positions.
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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples