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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Dcode.org anthology of comparative genomic tools.
PMID 15980535 · PMC1160116 · Nucleic acids research · 2005 · 8 claims · 7 setups
The dcode.org suite (zPicture, Mulan, eShadow, rVista 2.0, multiTF, Creme 2.0, ECR Browser) provides integrated tools for comparative genomic analysis and non-coding regulatory element discovery.
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Has reproduction · 60
TRAPID 2.0: a web application for taxonomic and functional analysis of de novo transcriptomes.
PMID 34197621 · PMC8464036 · Nucleic acids research · 2021 · 8 claims · 8 setups
TRAPID 2.0 is a web application performing global characterization of de novo transcriptomes via structural, functional, and taxonomic annotation in an initial processing phase, followed by an exploratory phase of downstream analyses.
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Has reproduction · 99
Free circular introns with an unusual branchpoint in neuronal projections.
PMID 31697236 · PMC6879206 · eLife · 2019 · 8 claims · 7 setups
A set of free circular introns with a non-canonical (C) branchpoint is enriched in distal neuronal projections; these appear to be tailless lariats that escape debranching.
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Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups
MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia
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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups
A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.
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Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups
A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.
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Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
PMID 18955805 · PMC2580002 · Journal of Korean medical science · 2008 · 8 claims · 1 setups
The patient is a compound heterozygote for CFTR mutations c.263T>G (p.Leu88X) in exon 3 and c.2089-2090insA (p.Arg697LysfsX33) in exon 13
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Novel peptide identification from tandem mass spectra using ESTs and sequence database compression.
PMID 17437027 · PMC1865584 · Molecular systems biology · 2007 · 7 claims · 6 setups
Traditional protein-sequence-database search engines fail to identify peptides from alternative splicing and coding SNP isoforms despite acquisition of good-quality tandem mass spectra
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The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.
PMID 19924287 · PMC2773936 · PloS one · 2009 · 8 claims · 8 setups
Human TLR genes are unequally polymorphic: TLR2, 4, 7, 8 and 9 are comparatively least diverse, whereas TLR1, 5, 6 and 10 show substantial allelic diversity.
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Has reproduction · 71
Systematic and computational identification of Androctonus crassicauda long non-coding RNAs.
PMID 33633149 · PMC7907363 · Scientific reports · 2021 · 7 claims · 7 setups
A custom ECF pipeline identified 13,401 lncRNAs in the A. crassicauda transcriptome (12,642 novel, 759 known).
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Has reproduction · 61
lncEvo: automated identification and conservation study of long noncoding RNAs.
PMID 33563213 · PMC7871587 · BMC bioinformatics · 2021 · 8 claims · 5 setups
lncEvo is an integrated Nextflow/Docker pipeline combining transcriptome assembly, lncRNA identification, and cross-species conservation analysis into a single workflow.
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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.
PMID 16778407 · PMC2729969 · Journal of Korean medical science · 2006 · 7 claims · 8 setups
The patient was diagnosed with cystic fibrosis based on elevated sweat chloride concentration and identification of two CFTR mutations.
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The secrets of a functional synapse--from a computational and experimental viewpoint.
PMID 16723009 · PMC1810317 · BMC bioinformatics · 2006 · 8 claims · 8 setups
Kinesin motor proteins move cargo along axonal microtubules to the synapse, with cargo specificity determined by adaptor/linker proteins rather than lipid recognition
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Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups
OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.
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Exhaustive prediction of disease susceptibility to coding base changes in the human genome.
PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.
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Human-zebrafish non-coding conserved elements act in vivo to regulate transcription.
PMID 16179648 · PMC1236720 · Nucleic acids research · 2005 · 8 claims · 4 setups
Deeply conserved human-zebrafish non-coding elements are enriched for in vivo cis-acting transcriptional regulatory activity.
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Phylogenomic approaches to common problems encountered in the analysis of low copy repeats: the sulfotransferase 1A gene family example.
PMID 15752422 · PMC555591 · BMC evolutionary biology · 2005 · 8 claims · 8 setups
A previously unidentified fourth human SULT1A gene (SULT1A4) exists on chromosome 16 and is transcriptionally active
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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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Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.
PMID 18989397 · PMC2565504 · PLoS computational biology · 2008 · 7 claims · 5 setups
The locations of sequence variants are correlated between paralogous human proteins more than expected by chance.
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Trans-natural antisense transcripts including noncoding RNAs in 10 species: implications for expression regulation.
PMID 18653530 · PMC2528163 · Nucleic acids research · 2008 · 8 claims · 7 setups
A new computational pipeline identifies trans-SAs using ESTs (not just mRNAs) across 10 animal species, improving coverage over prior methods