The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Dec. 07, 2021

Filed:

Apr. 06, 2016
Applicant:

The Hospital for Sick Children, Toronto, CA;

Inventors:

Stephen Scherer, Toronto, CA;

Mohammed Uddin, Toronto, CA;

Assignee:
Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/6883 (2018.01); G16B 30/00 (2019.01); G16B 20/00 (2019.01); G16B 20/20 (2019.01); G16B 20/40 (2019.01); G16B 20/10 (2019.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); G16B 20/00 (2019.02); G16B 20/10 (2019.02); G16B 20/20 (2019.02); G16B 20/40 (2019.02); G16B 30/00 (2019.02); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01);
Abstract

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 75percentile 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.


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