Segmental duplications: an 'expanding' role in genomic instability and disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/35093500.pdf
Reference91 articles.
1. Mazzarella, R. & Schlessinger, D. Pathological consequences of sequence duplications in the human genome. Genome Res. 8, 1007–1021 (1998).
2. Lupski, J. R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417–422 (1998).
3. Ji, Y., Eichler, E. E., Schwartz, S. & Nicholls, R. D. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res. 10, 597–610 (2000).References 1–3 are excellent early reviews that discuss segmental duplications in the human genome and their involvement in genomic disorders.
4. IHGSC (International Human Genome Sequencing Consortium). Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).Landmark paper that reports the draft sequence of the human genome and also presents a comprehensive analysis of repetitive and duplicated DNA in the entire human genome.
5. Shaikh, T. H., Kurahashi, H. & Emanuel, B. S. Evolutionarily conserved duplications in 22q11 mediate deletions, duplications, translocations and genomic instability. Genet. Med. 3, 6–13 (2001).
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