Oncogenetic pedigrees: relation between design and ability to predict mutation
Overview & Synopsis
We consider the risk of a disease caused by the presence within the genome of one deleterious mutation or two interacting mutations. For an individual, the probability of being mutated/doubly mutated can be estimated knowing the phenotype of the other members in the family pedigree. We study the performance of this process as a function of the size, the shape of the family tree and the parameters of the model. We carry out simulations using the parameters pertaining to breast/ovarian cancer in BRCA-mutated families.
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Document Information
| Document Title | Oncogenetic pedigrees: relation between design and ability to predict mutation |
|---|---|
| Author / Organization | Fabrice Kwiatkowski, Laurent Serlet, Andrzej Stos |
| Subject & Discipline | Multidisciplinary Academic Open Research |
| Categories | Science & Mathematics |
| Publication Year | 2023 |
| License / Rights | Open Access / Creative Commons |
| Resource Verification | Listed PDF (Verification Pending) |
| Original Host Website |
HAL Open Science
(hal.science)
|
| File Format | application/pdf (Portable Document Format) |
| Language | EN |
| Catalog ID | DOC-238939 |
| Original Source Link | Visit Source Page on hal.science » |