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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Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups
E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)
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Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain.
PMID 15737014 · PMC549606 · PLoS medicine · 2005 · 7 claims · 6 setups
A secondary EGFR exon 20 mutation (T790M) is found in tumors from patients with acquired resistance to gefitinib or erlotinib
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Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.
PMID 18439302 · PMC2432081 · BMC genomics · 2008 · 8 claims · 7 setups
Adjacent cassette exon pairs can be categorized by EST-derived correlation coefficient into three groups: mutually exclusive (ME, r<=-0.7), independent (IND, -0.2<=r<=0.2), and linked (LNK, r>=0.7)
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Genome-wide analysis of antisense transcription with Affymetrix exon array.
PMID 18211689 · PMC2257944 · BMC genomics · 2008 · 8 claims · 4 setups
A modified cDNA synthesis protocol (ATE: Antisense Transcriptome analysis using Exon array), which skips the first-cycle cDNA synthesis and IVT amplification step, labels cDNA in reverse orientation, enabling Exon arrays to detect antisense transcripts
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Pairagon+N-SCAN_EST: a model-based gene annotation pipeline.
PMID 16925839 · PMC1810554 · Genome biology · 2006 · 7 claims · 5 setups
Pairagon+N-SCAN_EST, using only native alignments, was as accurate as ENSEMBL and ExoGean in the EGASP mRNA/EST evidence assessment
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Anopheles gambiae genome reannotation through synthesis of ab initio and comparative gene prediction algorithms.
PMID 16569258 · PMC1557760 · Genome biology · 2006 · 8 claims · 7 setups
An exon-gene-union (EGU) algorithm followed by an open-reading-frame-selection algorithm can synthesize ab initio (GENSCAN, GeneMark, SNAP) and comparative (Ensembl/Genewise) predictions into a single, more complete CDS set
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52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart.
PMID 7561701 · PMC2192297 · The Journal of experimental medicine · 1995 · 7 claims · 7 setups
The 52-kD SS-A/Ro gene spans 10 kb of DNA and is composed of seven exons, with the translation initiation codon in exon 2 and the leucine zipper encoded by exon 4.
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups
Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes
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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAs.
PMID 16914452 · PMC1557807 · Nucleic acids research · 2006 · 8 claims · 8 setups
Analysis of 56,419 full-length cDNAs identified 6877 alternative splicing genes encoding 18,297 alternative splicing variants made of 37,670 exons.
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Computational analysis of splicing errors and mutations in human transcripts.
PMID 18194514 · PMC2234086 · BMC genomics · 2008 · 8 claims · 4 setups
Retained introns are significantly shorter than constitutively spliced introns
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cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer.
PMID 19671129 · PMC2731783 · BMC cancer · 2009 · 8 claims · 6 setups
cDNA sequencing detects P53 missense mutations in colorectal cancer more frequently and reliably than DNA sequencing
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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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Decreased expression of the Id3 gene at 1p36.1 in ovarian adenocarcinomas.
PMID 11161400 · PMC2363740 · British journal of cancer · 2001 · 7 claims · 7 setups
Id3 mRNA and protein expression are decreased in ovarian cancer cell lines compared to immortalized HOSE cells
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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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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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Non-EST based prediction of exon skipping and intron retention events using Pfam information.
PMID 16204458 · PMC1243800 · Nucleic acids research · 2005 · 7 claims · 5 setups
A novel ab initio method predicts exon skipping and intron retention events using only Pfam domain annotation, via a Viterbi-like dynamic programming algorithm applied to the Pfam alignment.
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X:Map: annotation and visualization of genome structure for Affymetrix exon array analysis.
PMID 17932061 · PMC2238884 · Nucleic acids research · 2008 · 7 claims · 4 setups
X:Map is a genome annotation database that maps every Affymetrix exon array probeset to Ensembl genome features (genes, ESTs, GenScan predictions) and supports both high-throughput and gene-centric analysis.
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.