Generating Large Scale pedigree drawings for Genetic Studies. R. Mayani1, G. Mehta1, E. Deelman1, K. Seth1, J. Voeckler1, F. Wang2 1) Information Sciences Institute, University Of Southern California, Marina Del Rey, CA; 2) Department of Psychiatry, Washington University, St Louis, MO. 


   Pedigree diagrams are common and useful tool in documenting the genetic history of a family over several generations. Most large-scale studies done by NIH and NIMH to determine disease linkages to genes include these charts including the full genotypic and phenotypic data. There are several software solutions for drawing these charts but most of them tend to have drag-and-drop or click-based user interface to draw pedigree charts for one family at a time.Curating and drawing pedigrees for large-scale data across several different studies of the same disease consisting of 1000's of families can be a cumbersome, long, tiring, and error prone job. Also currently most pedigree software have very basic error checking and reporting functionality to check mistakes in the pedigree drawing in terms of relationships, age, or other parameters. 
   We have created a Pedigree plotting service for the Center For Collaborative Genetic Studies on Mental Disorders funded by NIMH at https://www.nimhgenetics.org/pedigree that allows users to quickly generate large-scale pedigrees in a matter of minutes instead of months of manual work. The pedigree service allows users to upload a CSV file consisting of hundreds of families, totaling thousands of individuals. Several quality control steps check age, gender, and relationships as well as other aspects. It also provides the user options to select different shading patterns for each affected status. In matters of seconds to minutes the service generates large, high-quality pedigree graphs in PDF format, and makes it available for download. The PDF contains a well-documented legend page and an index page organized by family identifiers. The table of contents is hyper-linked for an improved online viewing experience. This service is free for use and is also freely available as a source to download. 
   The CGSMD pedigree plotting service is based on an open source software Madeline 2.0 Pedigree Drawing Engine developed at University of Michigan Kellogg Eye Center [1]. 
   [1] Madeline 2.0 PDE: A new program for local and web-based pedigree drawing, E. Trager; R. Khanna; A. Marrs; L. Siden; K. Branham; A. Swaroop; J. Richards. Bioinformatics 2007; doi: 10.1093/bioinformatics/btm242.