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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Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
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Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.
PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups
Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938
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Characterization of 954 bovine full-CDS cDNA sequences.
PMID 16305752 · PMC1314900 · BMC genomics · 2005 · 7 claims · 8 setups
954 bovine full-length insert cDNA (bFLIC) clones representing 762 distinct loci were sequenced and characterized
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A computational study of off-target effects of RNA interference.
PMID 15800213 · PMC1072799 · Nucleic acids research · 2005 · 8 claims · 5 setups
The chance of RNAi off-target effects is considerable, ranging from 5% to 80% depending on organism and parameters, when using exact sequence identity between siRNA and transcripts.
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Has reproduction · 75
Roar: detecting alternative polyadenylation with standard mRNA sequencing libraries.
PMID 27756200 · PMC5069797 · BMC bioinformatics · 2016 · 8 claims · 5 setups
Roar, a method using PRE/POST read counts around annotated APA sites to compute an m/M ratio and a ratio-of-ratios (roar) statistic, detects differential 3'UTR shortening/lengthening from standard RNA-seq libraries.
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Large-scale analysis of Macaca fascicularis transcripts and inference of genetic divergence between M. fascicularis and M. mulatta.
PMID 18294402 · PMC2287170 · BMC genomics · 2008 · 8 claims · 6 setups
Constructed full-length-enriched cDNA libraries and determined 85,721 EST sequences and 9407 full-insert sequences from cynomolgus macaque brain (7 regions), testis, and liver
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Speeding disease gene discovery by sequence based candidate prioritization.
PMID 15766383 · PMC1274252 · BMC bioinformatics · 2005 · 7 claims · 8 setups
Disease genes (OMIM) differ significantly from non-disease genes in sequence-based features including gene/cDNA/protein size, exon number, homolog conservation, secretion signal, 3' UTR length, CpG islands, and distance to nearest gene.
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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.
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Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.
PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups
The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters
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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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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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Comparative genomic analysis of prion genes.
PMID 17199895 · PMC1781936 · BMC genomics · 2007 · 8 claims · 8 setups
SPRN and PRNP homologues are present in all vertebrates, whereas PRND is restricted to tetrapods and PRNT is restricted to primates
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Expanding CEP290 mutational spectrum in ciliopathies.
PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.
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An optimized procedure for the design and evaluation of Ecotilling assays.
PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups
An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays
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Manual annotation and analysis of the defensin gene cluster in the C57BL/6J mouse reference genome.
PMID 20003482 · PMC2807441 · BMC genomics · 2009 · 8 claims · 6 setups
Manual annotation of the mouse Chromosome 8 defensin region identifies 98 gene loci: 54 in the alpha-defensin cluster and 44 in the beta-defensin cluster
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Has reproduction · 37
RNA Editing Alterations Define Disease Manifestations in the Progression of Experimental Autoimmune Encephalomyelitis (EAE).
PMID 36429012 · PMC9688714 · Cells · 2022 · 6 claims · 7 setups
RNA-editing events mediated by APOBEC and ADAR deaminases are significantly reduced throughout the course of EAE disease progression.
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Has reproduction · 74
Transcriptome profiling of Giardia intestinalis using strand-specific RNA-seq.
PMID 23555231 · PMC3610916 · PLoS computational biology · 2013 · 8 claims · 8 setups
Most of the G. intestinalis genome is transcribed in in vitro-grown trophozoites, but at vastly different expression levels.
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miRBase: tools for microRNA genomics.
PMID 17991681 · PMC2238936 · Nucleic acids research · 2008 · 8 claims · 6 setups
miRBase release 10.0 contains 5071 miRNA hairpin loci from 58 species, expressing 5922 distinct mature miRNA sequences, a growth of over 2000 sequences in 2 years
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Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass.
PMID 18443592 · PMC2742198 · Nature genetics · 2008 · 8 claims · 8 setups
Osteoglycin (Ogn) is a major candidate regulator of rat LVM, with increased Ogn protein expression associated with elevated LVM