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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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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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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Has reproduction · 60
A comparative analysis of blastoid models through single-cell transcriptomics.
PMID 39524369 · PMC11543915 · iScience · 2024 · 8 claims · 7 setups
EPSC-derived blastoids are transcriptomically distinct from nPSC-derived blastoids, with nPSC-blastoids clustering closer to natural blastocysts.
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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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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups
Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA
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Evolutionarily conserved and diverged alternative splicing events show different expression and functional profiles.
PMID 16195578 · PMC1240112 · Nucleic acids research · 2005 · 8 claims · 5 setups
Alternative splices in 10,818 human-mouse gene pairs can be classified as conserved, novel, or diverged based on genomic and transcript-level cross-species comparison.
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Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).
PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups
89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones
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Identification of functional SNPs in the 5-prime flanking sequences of human genes.
PMID 15717931 · PMC550646 · BMC genomics · 2005 · 6 claims · 5 setups
7 of 10 candidate SNPs tested by EMSA showed reproducible allele-specific differences in TF-DNA complex binding/stability
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Relative impact of nucleotide and copy number variation on gene expression phenotypes.
PMID 17289997 · PMC2665772 · Science (New York, N.Y.) · 2007 · 8 claims · 5 setups
SNPs and CNVs capture largely non-overlapping signals of genetic variation affecting gene expression
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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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Colorectal cancer genomics: evidence for multiple genotypes which influence survival.
PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups
Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution
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The UCSC Genome Browser Database: update 2006.
PMID 16381938 · PMC1347506 · Nucleic acids research · 2006 · 8 claims · 8 setups
The UCSC Genome Browser Database (GBD) provides integrated sequence and annotation data, with web tools (Genome Browser, Table Browser, Proteome Browser, Gene Sorter, BLAT, In Silico PCR) for visualizing and querying genomes of about a dozen vertebrate species and several model organisms.
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Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
PMID 17557180 · PMC1998882 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 7 claims · 7 setups
A BAC transgene containing Prop1 completely rescues the Prop1 mutant (dwarf) phenotype, showing all necessary regulatory elements lie within the BAC
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An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer.
PMID 19012953 · PMC2990916 · Cell · 2008 · 7 claims · 8 setups
shRNA pools targeting genes recurrently deleted in human HCC accelerate hepatocarcinogenesis in vivo, whereas randomly selected shRNA pools do not.
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Comparative genomics of the neglected human malaria parasite Plasmodium vivax.
PMID 18843361 · PMC2651158 · Nature · 2008 · 8 claims · 8 setups
P. vivax resembles other sequenced malaria parasites (P. falciparum, P. knowlesi, P. yoelii) in gene content and metabolic potential
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Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas.
PMID 18790768 · PMC2651569 · Molecular cancer therapeutics · 2008 · 8 claims · 6 setups
CDK4 mutations (K22Q, R24C, R24L) alone do not confer resistance to the BRAF inhibitor SB590885
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Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates.
PMID 19906729 · PMC2808989 · Nucleic acids research · 2010 · 8 claims · 6 setups
Patrocles is a database compiling DSPs predicted to perturb miRNA-mediated gene regulation across seven vertebrate species, covering targets, miRNA precursors and silencing machinery.
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Comparative genome and phenotypic analysis of Clostridium difficile 027 strains provides insight into the evolution of a hypervirulent bacterium.
PMID 19781061 · PMC2768977 · Genome biology · 2009 · 8 claims · 7 setups
The 027 genomes (CD196 and R20291) contain 234 additional genes compared to strain 630, spread across at least 50 regions of genetic difference, including a phage island, transposon genes, two-component response regulators, drug resistance genes and transporters
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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.