| Title: | Genetic studies of the complex phenotypes using haplotype-aware models of gene and isoform expression (v2) |
| Lead Institution: | Seattle Children's Research Institute. |
| Principal investigator: |
Application 94960
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
About
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.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 11689 | Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import | Artem Khan (+7) | 2024 | Nature Genetics |
Enabling scientific discoveries that improve human health