Identification of structural variation in mouse genomes.

Journal article

Structural variation is variation in structure of DNA regions affecting DNA sequence length and/or orientation. It generally includes deletions, insertions, copy-number gains, inversions, and transposable elements. Traditionally, the identification of structural variation in genomes has been challenging. However, with the recent advances in high-throughput DNA sequencing and paired-end mapping (PEM) methods, the ability to identify structural variation and their respective association to human diseases has improved considerably. In this review, we describe our current knowledge of structural variation in the mouse, one of the prime model systems for studying human diseases and mammalian biology. We further present the evolutionary implications of structural variation on transposable elements. We conclude with future directions on the study of structural variation in mouse genomes that will increase our understanding of molecular architecture and functional consequences of structural variation.

Authors: Keane, T; Wong, K; Adams, D; Flint, J; Reymond, A

• Journal: Frontiers in genetics
• Volume: 5
• Pages: 192
• Publication date: 2014-01-01
• DOI: 10.3389/fgene.2014.00192
• EISSN: 1664-8021
• Language: English
• Keywords: Sanger Mouse Genomes Project; Heterogeneous Stock (HS); inbred strains of mice; paired-end mapping (PEM); structural variation (SV); next-generation sequencing (NGS); array comparative genome hybridization (aCGH)