Mutations in human genetic disease

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Chen, Jian-Min, eds. 2012. Mutations in human genetic disease. Shanghai: InTech.

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Abstract

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

Item Type:	Book - edited
Book Type:	Edited Book
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Additional Information:	This is an Open Access book available via the URL listed.
Publisher:	InTech
ISBN:	9789535107903
Last Modified:	31 Jul 2026 08:59
URI:	https://orca.cardiff.ac.uk/id/eprint/84140

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