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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Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.
PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups
No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases
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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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Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.
PMID 12615897 · PMC2193825 · The Journal of experimental medicine · 2003 · 8 claims · 8 setups
Artemis-deficient ES cells are severely impaired in VDJ coding joining but retain relatively normal RS (signal) joining
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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Has reproduction · 79
Enhanced protein isoform characterization through long-read proteogenomics.
PMID 35241129 · PMC8892804 · Genome biology · 2022 · 6 claims · 4 setups
A long-read proteogenomics pipeline integrating PacBio long-read RNA-seq with MS-based proteomics enhances isoform-resolved protein characterization
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.
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Has reproduction · 76
The genome and development-dependent transcriptomes of Pyronema confluens: a window into fungal evolution.
PMID 24068976 · PMC3778014 · PLoS genetics · 2013 · 8 claims · 8 setups
The 50 Mb P. confluens genome with 13,369 predicted protein-coding genes is more characteristic of higher filamentous ascomycetes than of the large, repeat-rich Tuber melanosporum genome, showing that the truffle's expanded genome is not typical of the Pezizales.
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SVC: structured visualization of evolutionary sequence conservation.
PMID 15991338 · PMC1160265 · Nucleic acids research · 2005 · 7 claims · 5 setups
SVC aligns protein-coding sequences of orthologous gene pairs and maps them back onto their encoding exons/introns to generate a scaffold of conserved gene structure.
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Exogean: a framework for annotating protein-coding genes in eukaryotic genomic DNA.
PMID 16925841 · PMC1810556 · Genome biology · 2006 · 8 claims · 5 setups
Exogean is a framework using directed acyclic coloured multigraphs (DACMs) to represent biological objects (mRNA, ESTs, protein alignments, exons) and iteratively combine them into complex protein-coding transcript models.
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CONTRAST: a discriminative, phylogeny-free approach to multiple informant de novo gene prediction.
PMID 18096039 · PMC2246271 · Genome biology · 2007 · 8 claims · 5 setups
CONTRAST predicts exact coding region structures for 65% more human genes than the previous state-of-the-art de novo predictor (N-SCAN)
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miRGen 2.0: a database of microRNA genomic information and regulation.
PMID 19850714 · PMC2808909 · Nucleic acids research · 2010 · 7 claims · 6 setups
miRGen 2.0 is a database providing comprehensive information about the genomic position of human and mouse microRNA coding transcripts and their regulation by transcription factors
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Has reproduction · 73
Vespucci: a system for building annotated databases of nascent transcripts.
PMID 24304890 · PMC3936758 · Nucleic acids research · 2014 · 8 claims · 7 setups
Existing ChIP-seq and RNA-seq analysis platforms (e.g. Cufflinks, peak callers) are unsuited to GRO-seq because they assume spliced/exonic reads, uniform density and paired-end data, and cannot identify transcriptional units de novo across the whole genome.
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Nucleosome deposition and DNA methylation at coding region boundaries.
PMID 19723310 · PMC2768978 · Genome biology · 2009 · 8 claims · 8 setups
Nucleosomes and DNA methylation form distinct peaks just downstream of the start codon and just upstream of the stop codon, marking both ends of protein coding units genome-wide.
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Evola: Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees.
PMID 17982176 · PMC2238928 · Nucleic acids research · 2008 · 6 claims · 7 setups
Evola combines genome synteny-based computational ortholog detection with manual curation of phylogenetic trees by experts to yield more reliable orthologs than automated pairwise methods
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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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Has reproduction · 83
MetaGT: A pipeline for de novo assembly of metatranscriptomes with the aid of metagenomic data.
PMID 36386613 · PMC9651917 · Frontiers in microbiology · 2022 · 7 claims · 4 setups
MetaGT is a pipeline that combines metatranscriptomic and metagenomic data from the same sample to assemble complete transcript sequences
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Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.
PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups
Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.
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Using several pair-wise informant sequences for de novo prediction of alternatively spliced transcripts.
PMID 16925842 · PMC1810557 · Genome biology · 2006 · 8 claims · 4 setups
MARS, an extension of the Twinscan algorithm, uses multiple pairwise informant genomes to predict human alternatively spliced transcripts de novo without expressed sequence information.
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene