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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Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAs.
PMID 16914452 · PMC1557807 · Nucleic acids research · 2006 · 8 claims · 8 setups
Analysis of 56,419 full-length cDNAs identified 6877 alternative splicing genes encoding 18,297 alternative splicing variants made of 37,670 exons.
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SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.
PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups
SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes
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Comparative genomics search for losses of long-established genes on the human lineage.
PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups
A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.
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Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups
Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.
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Global genetic diversity of human metapneumovirus fusion gene.
PMID 15207075 · PMC3323143 · Emerging infectious diseases · 2004 · 8 claims · 6 setups
Phylogenetic analysis of the HMPV F gene identifies two main groups (A and B, 93%-96% amino acid identity) further divided into four subgroups (A1, A2, B1, B2)
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A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
PMID 19956413 · PMC2786890 · Molecular vision · 2009 · 7 claims · 4 setups
A novel missense mutation (1565T→A) in exon 12 of TGFBI, causing an I522N amino acid substitution, causes lattice corneal dystrophy type I in the studied Chinese family.
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A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups
A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family
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Structural evolution of the protein kinase-like superfamily.
PMID 16244704 · PMC1261164 · PLoS computational biology · 2005 · 8 claims · 5 setups
All kinases in the superfamily share a 'universal core' domain consisting only of the regions required for ATP binding and the phosphotransfer reaction.
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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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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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family