Pedigree Drawing Research Articles

Development of Interactive Multimedia Learning in Aging Education

Objective: The purpose of this study was to develop and apply a webbased interactive multimedia instruction in aging education for college students. Methods: The development of the program involved the coordinated actions of the researcher as a content expert and a multimedia designer responsible for animation, simulation, and game production. An adaptation of the model for developing interactive multimedia, described by Ribbons(1998), was used to guide program construction: Analysis Planning Design Production Operation Evaluation phase. Results: The interactive multimedia program was entitled as virtual aging and composed of a total of 8 interactive multimedia lessons. Interactive learning activities consisted of simulations, games, as well as online pedigree and life timeline drawing to facilitate the cognitive and emotional interactional learning of aging process. Conclusion: Interactive multimedia could be an effective teaching media of aging education and be used in a variety of learners including health care professionals caring for older adults as well as lay persons. (Journal of Korean Society of Medical Informatics 13-3, 221-226, 2007)

Browsing Isolated Population Data

BackgroundIn our studies of genetically isolated populations in a remote mountain area in the center of Sardinia (Italy), we found that 80–85% of the inhabitants of each village belong to a single huge pedigree with families strictly connected to each other through hundreds of loops. Moreover, intermarriages between villages join pedigrees of different villages through links that make family trees even more complicated. Unfortunately, none of the commonly used pedigree drawing tools are able to draw the complete pedigree, whereas it is commonly accepted that the visual representation of families is very important as it helps researchers in identifying clusters of inherited traits and genotypes. We had a representation issue that compels researchers to work with subsets extracted from the overall genealogy, causing a serious loss of information on familiar relationships.To visually explore such complex pedigrees, we developed PedNavigator, a browser for genealogical databases properly suited for genetic studies.ResultsThe PedNavigator is useful for genealogical research due to its capacity to represent family relations between persons and to make a visual verification of the links during family history reconstruction. As for genetic studies, it is helpful to follow propagation of a specific set of genetic markers (haplotype), or to select people for linkage analysis, showing relations between various branch of a family tree of affected subjects.AvailabilityPedNavigator is an application integrated into a Framework designed to handle data for human genetic studies based on the Oracle platform. To allow the use of PedNavigator also to people not owning the same required informatics infrastructure or systems, we developed PedNavigator Lite with mainly the same features of the integrated one, based on MySQL database server. This version is free for academic users, and it is available for download from our site

Linkage of a Pedigree Drawing Program and Database to a Program for Determining BRCA Mutation Carrier Probability

An export module was developed for transferring primary relational pedigree data directly from a widely used pedigree program and relational database to the BRCAPRO program for calculation of BRCA gene mutation probability estimation.

Family History Information Exchange Services Using HL7 Clinical Genomics Standard Specifications

A number of family history applications are in use by health care professionals (e.g., CAGENE, Progeny, Partners Health care Family History Program) as well as by patients (e.g., the US Surgeon General’s Family History Program). Each has its own proprietary data format for pedigree drawing and for the maintenance of family history health information. Interoperability between applications is essentially non-existent. To date, disparate family history applications cannot easily exchange patient information. The receiving application should be able to understand the semantics of the incoming family history and enable the user to view and/or to edit it using the receiving applications interface. We envision that any family history application will be able to send and receive an individual’s family history information using the newly created HL7 Clinical Genomics Specifications through the Semantic Web, using services that will transform one format to the other through the HL7 canonical representation.

High-throughput pedigree drawing

Family trees have long been a valuable visual tool for geneticists in identifying clusters of inherited traits and genotypes. As more data are collected, drawing the graphs by hand becomes impractical and, for this reason, we have developed the pedigree software CraneFoot. It can process any family graph with minimal computational cost by making a pedigree transformation that enables the use of a linear node positioning algorithm. The program is designed for automated drawing to printed media and efficient visual classification of genetically interesting families from large data sets. It also incorporates a robust pedigree topology check with detailed error messages.

Pharmacogenomics, genetic testing and ethnic variability: tackling the ethical questions.

Dr Winkelmann is the Head of the Cooperation Unit for Pharmacogenomics and Applied Genomics in Heidelberg, which was founded in 2001 by the Department of Internal Medicine VI and the Coordination Centre for Clinical Trials at the University of Heidelberg. His main interests are sophisticated phenotyping procedures for patient characterization and the conduct of multicenter clinical trials according to international standards with state-of-the-art data management. He currently applies new genomic tools in order to achieve progress in personalized medicine using collaborating networks of general practitioners for patient enrollment. The focus of his research group is on the common complex genetic cardiovascular and metabolic diseases ranging from coronary artery disease, dyslipidemia and hypertension, to metabolic syndrome and diabetes mellitus. In collaboration with partners from biotech, the genomic techniques used in clinical studies include haplotyping of candidate genes, gene expression profiling of peripheral leucocytes and proteomics in order to identify new biomarkers of effect in therapeutic studies or pathway/target gene identification in disease-specific family studies using microarray-based linkage approaches. An innovative web-based remote data entry system with an integrated pedigree drawing tool is used in the family studies. Dr Winkelmann is also involved as the clinical database coordinator for a European Framework VI research initiative of leading European centers in cardiovascular genetics for identification of risk genes for atherothrombosis in coronary artery disease by transcriptome and proteome analysis and high throughput exon resequencing at the Wellcome Trust Sanger Institute, Cambridge, UK.

PedNavigator: a pedigree drawing servlet for large and inbred populations.

PedNavigator is a pedigree drawing application for large and complex pedigrees. It has been developed especially for genetic and epidemiological studies of isolated populations characterized by high inbreeding and multiple matrimonies. PedNavigator is written in Java and is intended as a server-side web application, allowing researchers to 'walk' through family ties by point-and-clicking on person's symbols. The application is able to enrich the pedigree drawings with genotypic and phenotypic information taken from the underlying relational database.

Mal de Meleda: A New Geographical Localization in Anatolia

Background: Mal de Meleda (MDM) is an autosomal recessive form of palmoplantar keratoderma first described on the Dalmatian island of Meleda. MDM has been observed in many other countries so that the origin of the MDM gene may be elsewhere than in Meleda. Objective: After identification of the first MDM patient during a medical visit, a study was planned to reveal other families with MDM in the Köprüçay region in Anatolia. Methods: The patient was interviewed with a questionnaire including a pedigree drawing. All the subsequent cases reported to be of MDM were visited for clinical examination and pedigree drawings. Results: Thirty-nine patients, 8 families and 2 additional cases with MDM were identified in a 50-km² mountainous region in Köprüçay canyon in Anatolia. The prevalent clinical features were nail involvement (80%), ‘glove-and-sock’ distribution of the keratoderma (60%), edema on the hands/feet (60%), conical tapering of the fingertips (60%) and hyperhidrosis on the palms and soles (50%). Conclusion: To our knowledge, this is the largest series reported. The relationship between the patients in Meleda and those in Anatolia awaits discovery by further researches that will be carried out with the collaboration of dermatology, genetics and medical history departments.

The art of pedigree drawing: algorithmic aspects.

Giving a meaningful representation of a pedigree is not obvious when it includes consanguinity loops, individuals with multiple mates or several related families. We show that finding a perfectly meaningful representation of a pedigree is equivalent to the interval graph sandwich problem and we propose an algorithm for drawing pedigrees.

Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases

Objectives: To evaluate the potential effect of computer support on general practitioners' management of familial breast and ovarian cancer, and to compare the effectiveness of two different types of computer...

CoPE: a collaborative pedigree drawing environment.

We developed a collaborative pedigree environment called CoPE. This environment includes a Java program for drawing pedigrees and a standardized system for pedigree storage. Unlike other existing pedigree programs, this software is particularly intended for epidemiologists in the sense that it allows customized automatic drawing of large numbers of pedigrees and remote and distributed consultation of pedigrees. At http://www.infobiogen.fr/services/CoPE

Cyrillic 2 program for pedigree drawing

Cyrillic 2 program for pedigree drawing

NEW SOFTWARE: Cyrillic 2.0 for Pedigree Drawing

NEW SOFTWARE: Cyrillic 2.0 for Pedigree Drawing