SYSTEMS, METHODS, AND ENVIRONMENT FOR AUTOMATED REVIEW OF GENOMIC DATA TO IDENTIFY DOWNREGULATED AND/OR UPREGULATED GENE EXPRESSION INDICATIVE OF A DISEASE OR CONDITION

摘要

The disclosure relates to systems and methods for automated review of genomic data to identify genetic features indicative of a particular disease or condition. The system accesses genomic data of a first cohort of individuals and identifies one or more genes each of which is differentially expressed by individuals in a group having the disease or condition compared with a control group. The system accesses single-nucleotide polymorphism (SNP) data of a second cohort of individuals different from the first cohort and identifies SNPs associated with the disease or condition. The system determines an intersection between the set of identified genes and the SNPs associated with the disease or condition to identify one or more genes that are downregulated due to the disease or condition. Related treatment methods are also included.

主权项

1. A system for identifying one or more genes that are downregulated due to a disease or condition, the system comprising:
a processor; and a memory having instructions stored thereon, wherein the instructions, when executed by the processor, cause the processor to:
(a) access genomic data of a first cohort of individuals, wherein the first cohort comprises a group of individuals having the disease or condition and a control group of individuals that do not have the disease or condition;(b) identify, from the genomic data of at least a subset of the first cohort, a set of one or more genes each of which is differentially expressed by individuals in the group having the disease or condition compared with the control group;(c) access single-nucleotide polymorphism (SNP) data of a second cohort of individuals different from the first cohort;(d) identify, from the SNP data of at least a subset of the second cohort, a plurality of SNPs associated with the disease or condition; and(e) determine an intersection between the set of one or more genes identified in (b) and the plurality of SNPs associated with the disease or condition identified in (d) to identify one or more genes that are downregulated due to the disease or condition.