Abstract: The information management system disclosed enables caregivers to make better decisions by using aggregated data. The system enables the integration, validation and analysis of genetic, phenotypic and clinical data from multiple subjects. A standardized data model stores a range of patient data in standardized data classes comprising patient profile, genetic, symptomatic, treatment and diagnostic information. Data is converted into standardized data classes using a data parser specifically tailored to the source system. Relationships exist between standardized data classes, based on expert rules and statistical models, and are used to validate new data and predict phenotypic outcomes. The prediction may comprise a clinical outcome in response to a proposed intervention. The statistical models and methods for training those models may be input according to a standardized template.

Abstract: Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.