Mendelian Model Based Inference in Statistical Genetics

Period of Performance: 05/01/2002 - 04/30/2003


Phase 2 SBIR

Recipient Firm

Insightful Corporation
Seattle, WA 98109
Principal Investigator


DESCRIPTION (provided by applicant): We will develop S+Gene, a comprehensive, easy-to-use toolkit for analyzing human genetic data. We will include the two main algorithms for exact linkage analysis: the Elston-Stewart algorithm which allows for large pedigrees, and the Lander-Green algorithm which allows for a large number of marker loci. Both algorithms will include pairwise and multipoint linkage analysis, and allow for dichotomous and quantitative traits and diseases, as well as complex pedigrees. We will also develop software for Transmission Disequilibrium Tests (TDT) for dichotomous traits when parental data is not or is only scarcely available, and TDT methods for quantitative traits or complex diseases, which are typically due to a combination of multiple genetic loci and environmental effects. Hardy-Weinberg testing and a pedigree plotting routine will be additional features of this software package. All the linkage routines and hypothesis tests will be packaged in one user-friendly format and allow for flexibility of data-formats. Combined with other S-Plus capabilities, the S+Gene module proposed here will provide the genetic epidemiologist with an unprecedented set of easy-to-use tools to analyze human genetic data. PROPOSED COMMERCIAL APPLICATION: NOT AVAILABLE