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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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups
Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models
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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis
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Shotgun proteomics and biomarker discovery.
PMID 12364816 · PMC3851423 · Disease markers · 2002 · 8 claims · 7 setups
Shotgun (LC/LC-MS/MS, e.g. MudPIT) proteomic approaches show advantages over gel-based techniques in speed, sensitivity, scope of analysis, and dynamic range.
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups
A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members
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Upgrades to StellaBase facilitate medical and genetic studies on the starlet sea anemone, Nematostella vectensis.
PMID 17982171 · PMC2238866 · Nucleic acids research · 2008 · 6 claims · 5 setups
StellaBase Disease houses homology data for 155,904 invertebrate isoforms of human disease genes across four model systems, including 14,874 predicted Nematostella genes
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In silico segmentations of lentivirus envelope sequences.
PMID 17376229 · PMC1847453 · BMC bioinformatics · 2007 · 8 claims · 8 setups
C and V regions of lentivirus SU sequences have distinct statistical (oligonucleotide/amino-acid) compositions that HMMs can learn and use to delimit them.
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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups
A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.
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Crunching the bio-numbers.
PMID 14664241 · PMC1316909 · Environmental health perspectives · 2003 · 8 claims · 6 setups
The eTag Assay System rapidly identifies genes and related proteins without complex sample preparation or follow-up bioinformatics, unlike microarrays
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Chimp genome: branching out.
PMID 16136102 · PMC7420934 · Nature · 2005 · 8 claims · 8 setups
The Chimpanzee Sequencing and Analysis Consortium published the initial draft chimpanzee genome sequence and compared it to the human genome.
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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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Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan.
PMID 10362120 · PMC2363055 · British journal of cancer · 1999 · 7 claims · 4 setups
p53 gene mutation rate is high in arsenic-related skin cancers (39% Bowen's disease, 28.6% BCC, 55.6% SCC)
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Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients
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Finding signals that regulate alternative splicing in the post-genomic era.
PMID 12429065 · PMC244920 · Genome biology · 2002 · 8 claims · 8 setups
Alternative splicing generates protein and regulatory diversity from a limited number of genes and modulates isoform levels in a cell-context-specific manner
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Has reproduction · 45
Identifying and classifying trait linked polymorphisms in non-reference species by walking coloured de bruijn graphs.
PMID 23536903 · PMC3607606 · PloS one · 2013 · 8 claims · 9 setups
Bubbleparse detects sequence variants directly from NGS reads without a reference genome, using the coloured de Bruijn graph implementation of Cortex plus a new depth-first bubble-finding module.
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Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
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Harnessing the HGP of public health.
PMID 15176090 · PMC1241998 · Environmental health perspectives · 2004 · 8 claims · 7 setups
The tombusvirus p19 protein selectively recognizes and sequesters short (21-22 nucleotide) silencing siRNAs, discriminating them from longer siRNAs by measuring siRNA length via tryptophan-mediated end-stacking interactions
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Molecular characterization of Campylobacter jejuni clones: a basis for epidemiologic investigation.
PMID 12194772 · PMC2732546 · Emerging infectious diseases · 2002 · 8 claims · 5 setups
Clonal complex, as defined by MLST, is an epidemiologically relevant unit for long- and short-term investigation of C. jejuni epidemiology.
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Has reproduction · 85
Chemical and genomic characterization of a potential probiotic treatment for stony coral tissue loss disease.
PMID 37024599 · PMC10079959 · Communications biology · 2023 · 8 claims · 8 setups
McH1-7 has broad-spectrum antibacterial activity against SCTLD-associated bacterial isolates and other Gram-positive/Gram-negative targets
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.