Revealing the human mutome

Chen, J. M., Férec, C. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2010. Revealing the human mutome. Clinical Genetics 78 (4) , pp. 310-320. 10.1111/j.1399-0004.2010.01474.x

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Abstract

The number of known mutations in human nuclear genes, underlying or associated with human inherited disease, has now exceeded 100,000 in more than 3700 different genes (Human Gene Mutation Database). However, for a variety of reasons, this figure is likely to represent only a small proportion of the clinically relevant genetic variants that remain to be identified in the human genome (the ‘mutome’). With the advent of next-generation sequencing, we are currently witnessing a revolution in medical genetics. In particular, whole-genome sequencing (WGS) has the potential to identify all disease-causing or disease-associated DNA variants in a given individual. Here, we use examples of recent advances in our understanding of mutational/pathogenic mechanisms to guide our thinking about possible locations outwith gene-coding sequences for those disease-causing or disease-associated variants that are likely so often to have been overlooked because of the inadequacy of current mutation screening protocols. Such considerations are important not only for improving mutation-screening strategies but also for enhancing the interpretation of findings derived from genome-wide association studies, whole-exome sequencing and WGS. An improved understanding of the human mutome will not only lead to the development of improved diagnostic testing procedures but should also improve our understanding of human genome biology.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Uncontrolled Keywords:	allelic and locus heterogeneity, copy number variation, deep intronic mutation, human genetic disease, human mutome, LINE-1-mediated retrotransposition, long-range transcriptional regulatory element, non-coding RNA gene, regulatory variant
Publisher:	Wiley-Blackwell
ISSN:	0009-9163
Last Modified:	20 Oct 2022 07:48
URI:	https://orca.cardiff.ac.uk/id/eprint/26430

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