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The genomic and functional characteristics of disease genes

The genomic and functional characteristics of disease genes
The genomic and functional characteristics of disease genes
Increasing evidence indicates that genes containing disease causal variation have distinct functional and genomic properties. The importance of understanding these properties is highlighted by efforts to filter lists of variants from next-generation sequencing studies, where the number of potentially deleterious variants, which are in fact unrelated to disease, may be large. Available evidence indicates that the majority of disease genes are ‘non-essential’ and their products occupy functionally peripheral positions in protein networks. They tend to be intermediate between genes that have core biological functions, particularly low mutation rates and low haplotype diversity, and genes for which high haplotype diversity and high mutation rates are advantageous (such as those involved in sensory perception and some immune system functions). Evidence presented here supports these conclusions through analysis of integrated data sets incorporating the latest mutational profiles, linkage disequilibrium structure and other genomic properties of individual genes. The analysis highlights the contrasting functions of genes predicted as least and most likely to contain disease variation and provides a basis for filtering gene variant lists to exclude the least plausible disease candidates.
1467-5463
16-23
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64

Collins, Andrew (2015) The genomic and functional characteristics of disease genes. Briefings in Bioinformatics, 16 (1), 16-23. (doi:10.1093/bib/bbt091). (PMID:24425794)

Record type: Article

Abstract

Increasing evidence indicates that genes containing disease causal variation have distinct functional and genomic properties. The importance of understanding these properties is highlighted by efforts to filter lists of variants from next-generation sequencing studies, where the number of potentially deleterious variants, which are in fact unrelated to disease, may be large. Available evidence indicates that the majority of disease genes are ‘non-essential’ and their products occupy functionally peripheral positions in protein networks. They tend to be intermediate between genes that have core biological functions, particularly low mutation rates and low haplotype diversity, and genes for which high haplotype diversity and high mutation rates are advantageous (such as those involved in sensory perception and some immune system functions). Evidence presented here supports these conclusions through analysis of integrated data sets incorporating the latest mutational profiles, linkage disequilibrium structure and other genomic properties of individual genes. The analysis highlights the contrasting functions of genes predicted as least and most likely to contain disease variation and provides a basis for filtering gene variant lists to exclude the least plausible disease candidates.

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More information

e-pub ahead of print date: 13 January 2014
Published date: 1 January 2015
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 369335
URI: http://eprints.soton.ac.uk/id/eprint/369335
ISSN: 1467-5463
PURE UUID: 50f652e6-8de4-4073-81be-1b010e6bf048
ORCID for Andrew Collins: ORCID iD orcid.org/0000-0001-7108-0771

Catalogue record

Date deposited: 01 Oct 2014 11:57
Last modified: 15 Mar 2024 02:43

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