Literature DB >> 8130555

CECIL: a database for storing and retrieving clinical and molecular information on patients with Alport syndrome.

P M Nadkarni1, S T Reeders, J Zhou.   

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.

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Year:  1993        PMID: 8130555      PMCID: PMC2850656     

Source DB:  PubMed          Journal:  Proc Annu Symp Comput Appl Med Care        ISSN: 0195-4210


  4 in total

1.  Molecular genetics of hereditary nephritis.

Authors:  S T Reeders
Journal:  Kidney Int       Date:  1992-09       Impact factor: 10.612

2.  Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.

Authors:  J Zhou; D F Barker; S L Hostikka; M C Gregory; C L Atkin; K Tryggvason
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

3.  Improved tools for biological sequence comparison.

Authors:  W R Pearson; D J Lipman
Journal:  Proc Natl Acad Sci U S A       Date:  1988-04       Impact factor: 11.205

4.  Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

Authors:  J Zhou; J M Hertz; A Leinonen; K Tryggvason
Journal:  J Biol Chem       Date:  1992-06-25       Impact factor: 5.157

  4 in total
  1 in total

1.  Opportunities at the intersection of bioinformatics and health informatics: a case study.

Authors:  P L Miller
Journal:  J Am Med Inform Assoc       Date:  2000 Sep-Oct       Impact factor: 4.497

  1 in total

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