Patent ID: 9639658
Date: 2017-05-02
CPC Classifications: G16B,G16C

Claim:
1. A method of determining an individual's prognosis for a genetic disease or disorder with an ancestral-specific reference genome constructed by steps comprising: a) obtaining a familial genome data set comprising DNA sequences from members of the individual's family; b) comparing the DNA sequences within the familial genome data set to obtain a corrected familial genome data set; c) preparing a first composite familial genome data set from the corrected familial genome data set; d) repeating steps a-c for a second, third or more families to obtain a second, third or more composite familial genome data sets; e) evaluating the first, second, third or more composite familial genome data sets for single nucleotide polymorphisms (SNPs) and/or haplotypes and assigning statistical significance to the SNPs and/or haplotypes; f) grouping the first, second, third or more composite familial genome data sets based on single nucleotide polymorphisms (SNPs) and/or haplotypes that are statistically significant; g) preparing the ancestral-specific reference genome by compiling the SNPs and/or haplotypes shared by a group of composite familial genome data sets with the same ancestry; and h) comparing a DNA sequence of the individual's genome with the ancestral specific reference genome to determine the presence of a risk-modifying or disease-causing structural or functional variant within the ancestral specific reference genome that indicates the level of severity of the genetic disease or disorder and making the individual's prognosis.