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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The two faces of Alba: the evolutionary connection between proteins participating in chromatin structure and RNA metabolism.
PMID 14519199 · PMC328453 · Genome biology · 2003 · 8 claims · 5 setups
Sequence-profile (PSI-BLAST) searches unify archaeal Alba with eukaryotic RNase P/MRP subunits Rpp20/Pop7 and Rpp25, and with the ciliate macronuclear-development protein Mdp2, into a single Alba superfamily.
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Analysis of the human Alu Ye lineage.
PMID 15725352 · PMC554112 · BMC evolutionary biology · 2005 · 8 claims · 6 setups
Two new Alu subfamilies, Ye4 and Ye6, were discovered, complementing the previously described Ye5 subfamily.
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Bioinformatics analysis of the locus for enterocyte effacement provides novel insights into type-III secretion.
PMID 15757514 · PMC1084347 · BMC microbiology · 2005 · 8 claims · 7 setups
PSI-BLAST identified several novel homologies between LEE-encoded and Ysc-Yop-associated proteins
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Identifying related L1 retrotransposons by analyzing 3' transduced sequences.
PMID 12734010 · PMC156586 · Genome biology · 2003 · 8 claims · 6 setups
L1 elements with transduction-derived 3' sequence (L1-TDs) can be computationally identified using RepeatMasker/TSDfinder and grouped into families sharing a common progenitor via BLAST comparison of downstream sequences.
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A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.
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A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.
PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups
A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples
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An SVD-based comparison of nine whole eukaryotic genomes supports a coelomate rather than ecdysozoan lineage.
PMID 15606920 · PMC544558 · BMC bioinformatics · 2004 · 8 claims · 7 setups
SVD-based analysis of tetrapeptide frequency vectors can compare whole eukaryotic proteomes without pre-defining orthologs or aligning homologous sites
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Computational verification of protein-protein interactions by orthologous co-expression.
PMID 15740634 · PMC555590 · BMC bioinformatics · 2005 · 7 claims · 8 setups
Co-expression of orthologous protein pairs across multiple species can verify/predict S. cerevisiae PPIs with better performance than S. cerevisiae co-expression alone.
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NovelFam3000--uncharacterized human protein domains conserved across model organisms.
PMID 16533400 · PMC1440326 · BMC genomics · 2006 · 8 claims · 7 setups
NovelFam3000 is an online data centre unifying bioinformatics resource links, news, comments, and user-submitted experimental data (including a Gene Characterization Index) for ~3000 uncharacterized Pfam-B/DUF domain families conserved across worm, fly, and human
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A computational screen for type I polyketide synthases in metagenomics shotgun data.
PMID 18953415 · PMC2568958 · PloS one · 2008 · 8 claims · 6 setups
Combining HMM domain searches with maximum-likelihood phylogenetic trees can discriminate true PKS I sequences from evolutionarily related but functionally different enzymes (e.g., FAS I) in metagenomic data.
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.
PMID 15588494 · PMC3525102 · Human genomics · 2004 · 8 claims · 5 setups
PSD-mediated genomic architecture analogous to the 8p23/4p16 inversion regions is not unique to those loci but recurs genome-wide.