title: CECIL: a database for storing and retrieving clinical and molecular information on patients with Alport syndrome.
abstract: CECIL is a database that stores clinical and molecular information on patients with Alport syndrome. The clinical component of CECIL is specific to Alport syndrome; the component that stores and manipulates molecular data can be used for any disease caused by a gene mutation, such as cystic fibrosis. While offering the ability to retrieve patient data through compound Boolean queries, CECIL also offers the ability to manipulate sequence information in various ways. In particular, CECIL can perform an augmented sequence alignment of an abnormal (patient) DNA sequence with a reference sequence. CECIL is currently being used by members of the International Alport Syndrome consortium. We describe CECIL's features and discuss the design decisions made in generalizing CECIL's architecture.
authors.affiliation: Center for Medical Informatics, Yale School of Medicine, New Haven, CT 06510.
authors.forename: P M
authors.initials: PM
authors.lastname: Nadkarni
authors.forename: S T
authors.initials: ST
authors.lastname: Reeders
authors.forename: J
authors.initials: J
authors.lastname: Zhou
mesh_terms: D001483:Base Sequence; D003628:Database Management Systems; D016208:Databases, Factual; D006801:Humans; D016247:Information Storage and Retrieval; D008969:Molecular Sequence Data; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics; D010375:Pedigree