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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How many human genes can be defined as housekeeping with current expression data?
PMID 18416810 · PMC2396180 · BMC genomics · 2008 · 8 claims · 4 setups
Current EST and microarray transcriptome sampling is far from saturated, limiting gene detectability and understanding of tissue-specific expression
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A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.
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Phylogenetic profiling of the Arabidopsis thaliana proteome: what proteins distinguish plants from other organisms?
PMID 15287975 · PMC507878 · Genome biology · 2004 · 8 claims · 6 setups
3,848 Arabidopsis proteins were identified as likely plant-specific based on phylogenetic profiling and EST confirmation in multiple plant species
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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs.
PMID 12783626 · PMC161800 · BMC genomics · 2003 · 8 claims · 5 setups
A comparative genomics approach using hamster testis cDNA sequencing can identify genes not previously annotated in the human, mouse, rat and Fugu genomes
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Genome mapping and expression analyses of human intronic noncoding RNAs reveal tissue-specific patterns and enrichment in genes related to regulation of transcription.
PMID 17386095 · PMC1868932 · Genome biology · 2007 · 8 claims · 4 setups
More than 55,000 totally intronic noncoding (TIN) RNAs are transcribed from the introns of 74% of unique RefSeq genes.
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Evolutionarily conserved human targets of adenosine to inosine RNA editing.
PMID 15731336 · PMC549564 · Nucleic acids research · 2005 · 8 claims · 6 setups
Identified four novel human ADAR editing substrates causing amino acid changes: FLNA, BLCAP, CYFIP2 and IGFBP7
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ASPIC: a web resource for alternative splicing prediction and transcript isoforms characterization.
PMID 16845044 · PMC1538898 · Nucleic acids research · 2006 · 8 claims · 2 setups
The ASPIC algorithm, using an optimization procedure that minimizes splice site predictions and transcript isoforms from multiple EST-genome alignments, outperforms other similar AS-prediction tools in sensitivity and selectivity
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Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis.
PMID 12908878 · PMC194569 · BMC genomics · 2003 · 8 claims · 7 setups
XRRA1 is a novel gene down-regulated ~2-fold in XR-resistant HCT116 Clone2_XRR relative to HCT116 Clone10, identified via cDNA microarray
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Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina.
PMID 14519200 · PMC328454 · Genome biology · 2003 · 8 claims · 5 setups
Annotation of 8,633 high-quality non-mitochondrial/non-ribosomal ESTs shows 57% represent known genes and 43% are unknown or novel, with M15E having the highest proportion of novel ESTs
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Predicting candidate genes for human deafness disorders: a bioinformatics approach.
PMID 16854223 · PMC1564145 · BMC genomics · 2006 · 8 claims · 4 setups
A bioinformatic approach combining expression databases and protein interaction data narrows ~2400 candidate genes across deafness loci to a manageable set of candidates.
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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Genome wide identification of recessive cancer genes by combinatorial mutation analysis.
PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups
A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)
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Phylogenetic analysis of mRNA polyadenylation sites reveals a role of transposable elements in evolution of the 3'-end of genes.
PMID 18757892 · PMC2553571 · Nucleic acids research · 2008 · 8 claims · 6 setups
3'-most (L type) poly(A) sites are more conserved than upstream F/M type sites, while intronic (C/H type) sites are the least conserved
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Evidence for a preferential targeting of 3'-UTRs by cis-encoded natural antisense transcripts.
PMID 16204454 · PMC1243798 · Nucleic acids research · 2005 · 8 claims · 4 setups
Cis-encoded natural antisense RNAs show striking preferential complementarity to 3′-UTRs of their target genes in human and mouse genomes
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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?
PMID 19094205 · PMC2637867 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
AR was duplicated into two paralogs, AR-A and AR-B, during a teleost-specific whole genome duplication (WGD), after the split of Acipenseriformes but before the divergence of Osteoglossiformes.
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A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups
SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters
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POCUS: mining genomic sequence annotation to predict disease genes.
PMID 14611661 · PMC329128 · Genome biology · 2003 · 8 claims · 6 setups
Genes predisposing to the same disease tend to share functional annotation IDs (GO/InterPro) more than expected by chance
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Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults.
PMID 15169551 · PMC441375 · BMC genomics · 2004 · 8 claims · 8 setups
A very large, previously uncharacterized gene, AHI1, containing WD40 and SH3 domains was discovered in the candidate interval