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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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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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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Visualizing the genome: techniques for presenting human genome data and annotations.
PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups
Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation
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SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis.
PMID 17338820 · PMC1839109 · BMC bioinformatics · 2007 · 6 claims · 4 setups
EVDB is a comprehensive, non-redundant relational database of known human splice variants built from NCBI Entrez Gene and Evidence Viewer data
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A DNA microarray survey of gene expression in normal human tissues.
PMID 15774023 · PMC1088941 · Genome biology · 2005 · 6 claims · 6 setups
Unsupervised hierarchical clustering of gene expression groups normal tissue samples largely according to anatomic location, cellular composition, or physiologic function.
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Database resources of the National Center for Biotechnology Information.
PMID 17170002 · PMC1781113 · Nucleic acids research · 2007 · 8 claims · 8 setups
NCBI maintains an integrated suite of database resources (Entrez, PubMed, RefSeq, dbSNP, BLAST, etc.) for molecular biology data retrieval and analysis
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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
PMID 18226259 · PMC2268926 · BMC genomics · 2008 · 8 claims · 7 setups
GOLGA8E and WHDC1L1 are characterized for the first time as protein-coding transcripts from the PWS proximal breakpoint region.
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Functional analysis of novel SNPs and mutations in human and mouse genomes.
PMID 19091009 · PMC2638150 · BMC bioinformatics · 2008 · 8 claims · 7 setups
FANS streamlines functional analysis of novel SNPs and mutations into a simplified, few-click, four-step procedure.
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Integrating alternative splicing detection into gene prediction.
PMID 15705189 · PMC550657 · BMC bioinformatics · 2005 · 8 claims · 4 setups
An integrative intrinsic/extrinsic method was implemented in the gene finder EuGÈNE (as EuGÈNE-M) to detect AS evidence from aligned transcripts and generate alternative optimal gene predictions consistent with each detected AS event.
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Assessing the genomic evidence for conserved transcribed pseudogenes under selection.
PMID 19754956 · PMC2753554 · BMC genomics · 2009 · 8 claims · 8 setups
1750 transcribed pseudogene annotations (TPAs) were identified in the human genome, ~11.5% of all human pseudogene annotations.
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SelenoDB 1.0 : a database of selenoprotein genes, proteins and SECIS elements.
PMID 18174224 · PMC2238826 · Nucleic acids research · 2008 · 6 claims · 5 setups
Standard genome annotation pipelines misannotate selenoprotein genes because they rely on UGA as a universal stop codon, failing to recognize its dual role as the selenocysteine-recoding codon.
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ECgene: genome annotation for alternative splicing.
PMID 15608289 · PMC540072 · Nucleic acids research · 2005 · 8 claims · 5 setups
ECgene combines genome-based EST clustering with a graph-theoretic transcript assembly procedure to predict gene models including alternative splicing events.
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GeneSeer: a sage for gene names and genomic resources.
PMID 16176584 · PMC1266031 · BMC genomics · 2005 · 7 claims · 4 setups
GeneSeer aggregates gene name synonyms from GenBank, FlyBase, ExPASy, HUGO, ENSEMBL, UCSC and Gene Ontology into a name-translation database that maps any familiar name to a reference (SOFAR) identifier.
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GeneTide--Terra Incognita Discovery Endeavor: a new transcriptome focused member of the GeneCards/GeneNote suite of databases.
PMID 15608261 · PMC540076 · Nucleic acids research · 2005 · 8 claims · 7 setups
GeneTide integrates UniGene, DoTS, AceView, BLAT/GeneLoc genomic alignment, and GeneAnnot probe-set data into a unified Consensus/Uniqueness/Score scheme to associate ESTs with GeneCards genes
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups
TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls
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BIPASS: BioInformatics Pipeline Alternative Splicing Services.
PMID 17584795 · PMC1933140 · Nucleic acids research · 2007 · 8 claims · 4 setups
BIPASS offers two complementary services for alternative splicing (AS) research: BIPAS-SpliceDB, a queryable pre-computed AS data warehouse, and BIPAS-Align&Splice, an online pipeline for user-submitted sequences.
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Using DNA microarrays to study host-microbe interactions.
PMID 10998383 · PMC2627958 · Emerging infectious diseases · 2000 · 8 claims · 8 setups
DNA microarrays can measure transcript levels and detect sequence polymorphisms for every gene simultaneously in microbial genomes
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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups
A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.
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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups
No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.