SELECTION OF GENOMIC VARIANTS THROUGH GENE REGULATION MODELLING
Authors/Creators
- 1. Instituto de Medicina Molecular João Lobo Antunes
Description
The present invention relates to genomic mutations, and particularly, although not exclusively, to methods for detecting genomic mutations, which may be in coding or non-coding regions of a genome. In particular, the invention relates to methods for identifying multiple genomic or genetic mutations in conditions that may be associated with a complex genetic basis and/or epigenetic perturbations, and which provide a way to prioritise variants and reveal therapeutic insights and/or targets. The invention extends to methods of diagnosing disease characterised by genomic mutations, and also to methods of treating such conditions. The invention extends to computer-readable instructions, a computer-readable medium, and an apparatus for performing the methods described herein.
Files
AESousa-PAT-001.pdf
Files
(3.0 MB)
| Name | Size | Download all |
|---|---|---|
|
md5:2259d90cf1e1decce0d69544466ffd46
|
3.0 MB | Preview Download |
Additional details
Identifiers
- Other
- PCT/EP2024/078512
Related works
- Is documented by
- Publication: 10.1101/2023.12.27.573411 (DOI)
Dates
- Accepted
-
2024-10-10Provisional
Software
- Repository URL
- https://github.com/AESousaLabIMM/
- Programming language
- R
- Development Status
- Active