Patent Document ID: 9449143
Application ID: 13834685
Patent Flag: 1

Claim One:
1. A method of diagnosing a patient at risk for a genetic disease with an ancestral-specific reference genome constructed by steps comprising: a) obtaining a familial whole genome data set comprising whole genome DNA sequences from three or more individuals of the patient's family; b) comparing the whole genome DNA sequences within the familial whole genome data set to obtain a corrected familial whole genome data set; c) preparing a first composite familial whole genome sequence from the corrected familial whole genome data set; d) repeating steps a-c for a second, third or more families to obtain a second, third or more composite familial whole genome sequences; e) evaluating the first, second, third or more composite familial whole genome sequences 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 whole genome sequences 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 whole genome sequences with the same ancestry; and h) comparing a DNA sequence of the patient's whole genome with the ancestral-specific reference genome to diagnose the patient.