title: PhenoDB: an integrated client/server database for linkage and population genetics.
abstract: In this paper we describe PhenoDB, an Internet-accessible client/server database application for population and linkage genetics. PhenoDB stores genetic marker data on pedigrees and populations. A database for population and linkage genetics requires two core functions: data management tasks, such as interactive validation during data entry and editing, and data analysis tasks, such as generating summary population statistics and performing linkage analyses. In PhenoDB we attempt to make these tasks as easy as possible. The client/server architecture allows efficient management and manipulation of large datasets via an easy-to-use graphical interface. PhenoDB data (73 populations, 34 pedigrees, approximately 4200 individuals, and close to 80,000 typings) are stored in a generic format that can be readily exported to (or imported from) the file formats required by various existing analysis programs such as LIPED and Lathrop and Lalouel's Multipoint Linkage. PhenoDB allows performance of complex ad-hoc queries and can generate reports for use in project management. Finally, PhenoDB can produce statistical summaries such as allele frequencies, phenotype frequencies, and Chi-square tests of Hardy-Weinberg ratios of population/pedigree data.
authors.affiliation: Center for Medical Informatics, Yale University School of Medicine, New Haven, Connecticut, 06510, USA.
authors.forename: K H
authors.initials: KH
authors.lastname: Cheung
authors.forename: P
authors.initials: P
authors.lastname: Nadkarni
authors.forename: S
authors.initials: S
authors.lastname: Silverstein
authors.forename: J R
authors.initials: JR
authors.lastname: Kidd
authors.forename: A J
authors.initials: AJ
authors.lastname: Pakstis
authors.forename: P
authors.initials: P
authors.lastname: Miller
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
mesh_terms: D000483:Alleles; D003195:Computer Communication Networks; D003196:Computer Graphics; D003199:Computer Systems; D003627:Data Interpretation, Statistical; D003628:Database Management Systems; D005787:Gene Frequency; D008040:Genetic Linkage; D005819:Genetic Markers; D005828:Genetics, Population; D006801:Humans; D016247:Information Storage and Retrieval; D007256:Information Systems; D010375:Pedigree; D010641:Phenotype; D014584:User-Computer Interface
chemical_list: D005819:Genetic Markers