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Approved Research

Genetic studies of the complex phenotypes using haplotype-aware models of gene and isoform expression (v2)

Principal Investigator: Dr Pejman Mohammadi
Approved Research ID: 94960
Approval date: February 9th 2023

Lay summary

Our research involves developing new methods for finding associations between an individual's genetic makeup and complex phenotypes, such as height, body mass index, or disease susceptibility.

Current methods that test for genetic associations to disease analyze one genetic variant at a time ignoring the rest of the genetic context around it. From our past work we know that certain genetic variants can modify the activity of specific genes and in turn change the functional significance of any variants that sit the affected gene. We will develop a new class of genomic discovery methods that will systematically account for the genomic context around each genetic variant to improve the resolution of genetic studies of human disease. Our new methods are also expected to further improve the transferability of genomic discoveries across different ancestry backgrounds.

This five year project that has started in 2021, will produce a new class of methods that will hep us better understand the genome function and individual disease risks based on their genetic background.