Published October 10, 2024 | Version v2
Patent Open

SELECTION OF GENOMIC VARIANTS THROUGH GENE REGULATION MODELLING

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.

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AESousa-PAT-001.pdf

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Additional details

Identifiers

Other
PCT/EP2024/078512

Related works

Is documented by
Publication: 10.1101/2023.12.27.573411 (DOI)

Dates

Accepted
2024-10-10
Provisional

Software

Repository URL
https://github.com/AESousaLabIMM/
Programming language
R
Development Status
Active