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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GeneKeyDB: a lightweight, gene-centric, relational database to support data mining environments.
PMID 15790402 · PMC1274265 · BMC bioinformatics · 2005 · 8 claims · 6 setups
GeneKeyDB is a lightweight, gene-centric relational database that supports data mining and integration with computational analysis tools.
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Applying proteomics to the diagnosis and treatment of ALS and related diseases.
PMID 19670321 · PMC2836583 · Muscle & nerve · 2009 · 8 claims · 8 setups
Protein-based biomarkers for ALS/MND require further verification and large-scale validation/qualification studies, including disease mimics, before clinical use
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Application of machine learning in SNP discovery.
PMID 16398931 · PMC1955739 · BMC bioinformatics · 2006 · 8 claims · 6 setups
PolyBayes produces high false-positive SNP predictions even with stringent parameters
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Exome sequencing identifies the cause of a mendelian disorder.
PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups
Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.
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Has reproduction
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 20887964 · PMC2948809 · American journal of human genetics · 2010 · 5 claims · 3 setups
WDR11 is a gene involved in human puberty, identified via the chromosomal breakpoint of a balanced t(10;12) translocation in a Kallmann syndrome subject.
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In silico promoters: modelling of cis-regulatory context facilitates target predictio.
PMID 18505473 · PMC3823354 · Journal of cellular and molecular medicine · 2009 · 8 claims · 8 setups
An integrated 'profiling of transcriptional targets' (PTT) strategy by Freebern et al. identified IGF-1 as a co-modulator of immune cell function genes in mitogen/drug-activated T cells.
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Of rats and men.
PMID 15003114 · PMC395761 · Genome biology · 2004 · 8 claims · 10 setups
The rat genome has been sequenced to draft level, with over 90% of the genome sampled using more than 36 million sequence reads (assembly version 3.1)
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Charting the map of life.
PMID 11171541 · PMC1242061 · Environmental health perspectives · 2001 · 8 claims · 8 setups
Only 3-5% of the human genome, corresponding to 30,000-100,000 genes, is thought to be biologically functional
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Biomarker discovery in neurodegenerative diseases: a proteomic approach.
PMID 18938247 · PMC2939006 · Neurobiology of disease · 2009 · 6 claims · 8 setups
Proteomic profiling of CSF and plasma can identify candidate protein biomarkers that distinguish AD patients from controls with high sensitivity and specificity
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New perspectives on an old disease: proteomics in cancer research.
PMID 17472735 · PMC1895992 · Genome biology · 2007 · 8 claims · 8 setups
The HUPO Plasma Proteome Project has catalogued over 3,020 non-redundant gene products (>7,000 proteins/isoforms) in human plasma, many originating from tissues/organs rather than being plasma-intrinsic.
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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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Dog Y chromosomal DNA sequence: identification, sequencing and SNP discovery.
PMID 17026745 · PMC1630699 · BMC genetics · 2006 · 8 claims · 6 setups
Identified 32 male-specific Y-chromosome sequences totaling 24159 bp via combined Blast (human Y chromosome match, absence from female dog genome) and PCR male-specificity screening of a male poodle shotgun genome.
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TFBScluster web server for the identification of mammalian composite regulatory elements.
PMID 16845063 · PMC1538905 · Nucleic acids research · 2006 · 7 claims · 5 setups
TFBScluster is a web server that identifies genome-wide clusters of TFBSs conserved in multiple mammalian species using human or mouse as the reference genome.
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Olden times: looking back on a career at the NIEHS.
PMID 15289171 · PMC1247486 · Environmental health perspectives · 2004 · 8 claims · 3 setups
Kenneth Olden served 13 years as director of NIEHS and the National Toxicology Program, the first African American to head an NIH institute
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Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.
PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups
Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position
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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups
SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4
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Identification of "pathologs" (disease-related genes) from the RIKEN mouse cDNA dataset using human curation plus FACTS, a new biological information extraction system.
PMID 15115540 · PMC420239 · BMC genomics · 2004 · 6 claims · 3 setups
Bioinformatic sequence comparison of 60,770 RIKEN FANTOM2 mouse cDNA clones identified 2,578 sequences with 70-85% identity to known human disease genes/proteins
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Genome wide survey of G protein-coupled receptors in Tetraodon nigroviridis.
PMID 16022726 · PMC1187884 · BMC evolutionary biology · 2005 · 8 claims · 8 setups
466 Tetraodon GPCRs (Tnig-GPCRs) were identified genome-wide, of which 457 had not been previously reported
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Systematic identification of pseudogenes through whole genome expression evidence profiling.
PMID 16945953 · PMC1636364 · Nucleic acids research · 2006 · 8 claims · 8 setups
Developed a novel bioinformatics method that identifies pseudogenes by profiling whole-genome transcript and protein expression evidence
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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes