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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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 · 85
ScLRTC: imputation for single-cell RNA-seq data via low-rank tensor completion.
PMID 34844559 · PMC8628418 · BMC genomics · 2021 · 8 claims · 8 setups
scLRTC imputes dropout entries closest to the original expression values on simulated datasets, outperforming other state-of-the-art methods by SSE and PCC.
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Visualization-based discovery and analysis of genomic aberrations in microarray data.
PMID 15953389 · PMC1181623 · BMC bioinformatics · 2005 · 8 claims · 7 setups
ChARMView integrates dynamic visualization with automated statistical analysis (EM-based breakpoint detection, one-sample sign test, permutation mean test) to discover chromosomal aberrations from array CGH and gene expression data
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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups
Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families
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Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups
Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families
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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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A missense mutation in LIM2 causes autosomal recessive congenital cataract.
PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups
A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family
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Crystallin gene mutations in Indian families with inherited pediatric cataract.
PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups
Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population
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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
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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this 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.