Patent Document ID: 20150310163
Application ID: 14431702
Patent Flag: 0

Claim One:
1. A non-transitory computer-readable medium for phenotype assisted genome analysis and genetic disease diagnosis of an individual having computer-executable instructions that when executed causes one or more processors to perform the steps of (a) mapping a database of causative genes for genetic diseases and a database of associated phenotypes resulting in a first database of mapped causative genes for genetic diseases and associated phenotypes; (b) comparing a plurality of collected individual phenotypic information of said individual with said first database of mapped causative genes for genetic diseases and associated phenotypes resulting in a first phenotype-associated gene data sets; (c) comparing said first phenotype-associated gene data sets with a database of individualized genomic variations identified in said individual by sequencing a genome, an exome or a part of a genome of said individual; (d) creating a prioritized list of phenotype-associated variations based on said comparisons; and (e) comparing said phenotype-associated variations of said individual with a database of genetic diseases to produce a prioritized list of probable diseases.