Title
An investigation into the application of a graphical, rule-based system utilizing reversible data structures as a possible model for human pedigree systems (abstract)
Abstract
Pedigrees are widely used tools for genetic analysis of population, both human and animal. A pedigree consists of a finite and standardized set of symbols arranged in a two-dimensional format. The placement of each symbol is determined by the familial relationships in the represented groups. As such, the pedigree can be considered a pictograph. A pedigree also represents by inference the degree of genetic relationship between the individuals included. The analysis of genetic relationships, including risk assessment, inbreeding coefficients, linkage analysis, and other techniques, have been and continue to be vital components of the practice of both clinical and research-oriented genetics.A number of attempts have been made to computerize the production of pedigrees. These efforts have in common the ability to produce a pedigree from an extensive written family history. These systems are generally limited in their ability to represent complex pedigree structures. These complex structures result from two common types of events, inbreeding and multiple marriages. Also most systems lack an interactive user interface. The requisite data is entered into a textual database and the system generates the pedigree from the file. A graphic-oriented, real-time pedigree generator is not available at this time.This study will ascertain a suitable method for the computer representation of pedigree information, such that data in a graphic format can be represented in non-graphic format and vice versa. Control and presentation of the input into the graphical side of the system is critical. Only valid pedigrees should be allowed to be generated. The data structures chosen to accomplish this must be powerful enough to encode the desired complex relationships of interest. These structures must symbolically capture the additional genetic meaning. Also, the inferences drawn from the structures will aid in the analysis of the genetic relationships. This research will also investigate methods utilizing artificial intelligence techniques to perform the analysis and control of the pedigree.
Year
DOI
Venue
1990
10.1145/100348.100456
ACM Conference on Computer Science
Keywords
Field
DocType
real-time pedigree generator,complex relationship,genetic analysis,possible model,linkage analysis,genetic relationship,human pedigree system,rule-based system,reversible data structure,complex structures result,complex pedigree structure,valid pedigree,additional genetic meaning,pedigree information,complex structure,family history,real time,rule based system,data structure,artificial intelligent,risk assessment,genetics
ENCODE,Population,Data structure,Rule-based system,Computer science,Inference,Inbreeding,Pedigree chart,Theoretical computer science,Natural language processing,Artificial intelligence,User interface
Conference
ISBN
Citations 
PageRank 
0-89791-348-5
0
0.34
References 
Authors
0
3
Name
Order
Citations
PageRank
Charles Garner100.34
Michael V. Doran24313.31
Herbert E. Longenecker, Jr.320837.71