| Title: | Prioritizing Mendelian variants using GWAS and exome sequencing data |
| Lead Institution: | Brigham and Womens Hospital |
| Principal investigator: | Dr Christopher Cassa |
Application 41250
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About
We intend to improve the understanding of genetic diseases for patients with severe clinical syndromes using data from individuals with common or less severe forms of each disorder. We will use common genetic variants which carry a very small disease risk to identify adjacent genes which might be related to more severe forms of each disorder if damaged. For example, if a patient has very high cholesterol, we would try to determine whether the patient carries a common coding variant nearby which is related a nearby gene which might be important for cholesterol metabolism. Along the same lines, we are also interested in determining whether we can use variant and disease status data to improve clinical risk assessment for patients in established disease genes.4 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 11491 | Estimating clinical risk in gene regions from population sequencing cohort data | James D Fife (+1) | 2023 | American Journal of Human Genetics |
| 13301 | FUSE: Improving the estimation and imputation of variant impacts in functional screening | Tian Yu (+5) | 2024 | Cell Genomics |
| 9842 | Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification | Jayoung Ryu (+16) | 2024 | Nature Genetics |
| 11366 | Systematic elucidation of genetic mechanisms underlying cholesterol uptake | Marisa C. Hamilton (+16) | 2023 | Cell Genomics |
Enabling scientific discoveries that improve human health