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Other literature type . 2024
Data sources: ZENODO
ZENODO
Patent . 2024
Data sources: Datacite
ZENODO
Patent . 2024
Data sources: Datacite
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SELECTION OF GENOMIC VARIANTS THROUGH GENE REGULATION MODELLING

Authors: Raposo, Alexandre A.S.F.; Rosmaninho, Pedro; Espada de Sousa, Ana; Gulbenkian Institute for Molecular Medicine;

SELECTION OF GENOMIC VARIANTS THROUGH GENE REGULATION MODELLING

Abstract

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.

Keywords

Personalised Medicine, Computational Biology, Human Genomics

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Green