Article
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
Human mutation - 1 Oct 2011
Cooper David N, Bacolla Albino, Férec Claude, Vasquez Karen M, Kehrer-Sawatzki Hildegard, Chen Jian-Min
Abstract excerpt
Different types of human gene mutation may vary in size, from structural variants (SVs) 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 human genome is now recognized to contain "pervasive...
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