METHOD OF DETERMINING DISEASE CAUSALITY OF GENOME MUTATIONS

摘要

A method of identifying a gene or genomic mutation that is linked to causality of a neuropsychiatric disorder is provided. The method comprises identifying exons which exhibit an expression level that is at least within the 75th percentile of exon expression levels within a nucleic acid-containing sample from a mammal having a neuropsychiatric disorder; comparing the sequence of each identified exon to the sequence of a corresponding exon from a healthy control to identify rare or de novo sequence mutations within the identified exon; calculating the burden of rare or de novo mutations within the exon; and determining the correlation between expression level of the identified exon and burden of de novo or rare mutations in the exon, wherein an inverse correlation indicates that the exon gene is linked to causality of the neuropsychiatric disorder.