Unlabelled: The Madeline 2.0 Pedigree Drawing Engine (PDE) is a pedigree drawing program for use in linkage and family-based association studies. The program is designed to handle large and complex pedigrees with an emphasis on readability and aesthetics. For complex pedigrees, we use a hybrid algorithm in which consanguinous loops are drawn as cyclic graphs whenever possible, but we resort to acyclic graphs when matings can no longer be connected without line crossings. A similar hybrid approach is used to avoid line crossings for matings between distant descendants of different founding groups. Written in object-oriented C++ and released under the GNU General Public License (GPL), Madeline 2.0 PDE reads input files specified on the command line and generates pedigree drawings without user interaction. Pedigree output in scalable vector graphics (SVG) format can be viewed in browsers with native SVG rendering support or in vector graphics editors. We provide an easy-to-use public web service, which is experimental and still under development.
Availability: http://kellogg.umich.edu/madeline.
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http://dx.doi.org/10.1093/bioinformatics/btm242 | DOI Listing |
Iran J Public Health
February 2024
Dr. Farhud Genetic Clinic, Tehran, Iran.
Holoprosencephaly, a complicated brain abnormality arising from incomplete prosencephalon cleavage, affects both the forebrain and the face. Holoprosencephaly Type 11, with variable expression or partial penetrance, is caused by pathogenic variants associated with the disrupted Sonic Hedgehog ()-pathway. Herein, we aimed to describe a family with genetic nose problems.
View Article and Find Full Text PDFCurr Aging Sci
May 2024
Department of Obstetrics and Gynecology, Clinical Research Development Center, Imam Reza hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran
Background: X-linked mutations are highly important in clinical diagnosis, and at least 533 disorders are related to the genes located on the X chromosome.
Case Presentation: A 21-year-old Caucasian woman with a 24-year-old Caucasian man as her fiancé referred Clinical genetic lab for premarital genetic counseling (carrier screening). None of them had any abnormal manifestations.
Nucleic Acids Res
July 2024
Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung@Charité, Charitéplatz 1, 10117, Berlin, Germany.
Creating pedigree charts is a recurring task in biomedical research, but there are few online tools for drawing complex human pedigrees available and even fewer are free. With DrawPed we aim to close this gap. DrawPed automatically draws pedigree charts from standard PED format pedigree files.
View Article and Find Full Text PDFJ Feline Med Surg
September 2022
Department of Reproduction and Clinic of Farm Animals, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
Practical Relevance: An infertile tom used to be a relatively rare presentation in feline practice. However, as a result of breeding strategies targeting specific morphological/behavioural traits, and the influence of inbreeding (especially practised in rare breeds), among other factors, feline infertility has become a genuine clinical problem. Furthermore, increased interest among cat breeders and pet owners in diagnosing and treating an 'unsuccessful' tom (including using assisted reproductive techniques [ARTs]), has made such patients more commonplace in veterinary practice.
View Article and Find Full Text PDFBMC Bioinformatics
June 2022
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Background: The ubiquity of pedigrees in many scientific areas calls for versatile and user-friendly software. Previously published online pedigree tools have limited support for complex pedigrees and do not provide analysis of relatedness between pedigree members.
Results: We introduce QuickPed, a web application for interactive pedigree creation and analysis.
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