Submissions tagged with gene
(6 documents)
Cross-Product Extensions of the Gene Ontology
The Gene Ontology is being normalized and extended to include computable logical definitions. These definitions are partitioned into mutually exclusive cross-product sets, many of which reference o…
Received 28 July 2009 21:38 UTC; Posted 29 July 2009
Posted to: Genetics & Genomics, Bioinformatics
Protein Ontology and Community Curation
The Protein Ontology (PRO) is designed as a formal and well-principled Open Biomedical Ontologies (OBO) Foundry ontology for proteins. The components of PRO extend from the classification of protei…
Received 24 April 2009 12:34 UTC; Posted 24 April 2009
Posted to: Molecular Cell Biology, Bioinformatics
Aligning the top-level of SNOMED-CT with Basic Formal Ontology
Effective translational research requires automated analysis of large datasets collected by multiple researchers working at multiple locations. Reliable, machine interpretation of-—and reasoning w…
Received 07 October 2008 16:25 UTC; Posted 08 October 2008
Posted to: Bioinformatics
Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, ...
Received 06 August 2008 13:32 UTC; Posted 07 August 2008
Posted to: Genetics & Genomics, Immunology
Sociobiological Control of Plasmid copy number
Background:All known mechanisms and genes responsible for the regulation of plasmid replication lie with the plasmid rather than the chromosome. It is possible therefore that there can be copy-up…
Received 26 June 2008 07:28 UTC; Posted 26 June 2008
Posted to: Ecology, Microbiology
Genome-wide scanning versus candidate gene approach in the genetic architecture of common diseases.
In the Nature 7 June issue, researchers from the Welcome Trust Case Control Consortium (WTCCC) reported the findings of a large genome-wide association (GWA) study of 14,000 cases of common disease…
Received 18 December 2007 18:22 UTC; Posted 02 January 2008
Posted to: Genetics & Genomics
