The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Mechanisms for recurrent and complex human genomic rearrangements
Open accessAbstract
During the last two decades, the importance of human genome copy number variation (CNV) in disease has become widely recognized. However, much is not understood about underlying mechanisms. We show how, although model organism research guides molecular understanding, important insights are gained from study of the wealth of information available in the clinic. We describe progress in explaining nonallelic homologous recombination (NAHR), a major cause of copy number change occurring when control of allelic recombination fails, highlight the growing importance of replicative mechanisms to explain complex events, and describe progress in understanding extreme chromosome reorganization (chromothripsis). Both non-homologous end-joining and aberrant replication have significant roles in chromothripsis. As we study CNV, the processes underlying human genome evolution are revealed.
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Cites
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Cited by
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Self-citationTeratozoospermia: spotlight on the main genetic actors in the human
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Determinants of Mutation Rate Variation in the Human Germline
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Genetic abnormalities leading to qualitative defects of sperm morphology or function
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Metadata
- Authors
- Liu, P., Carvalho, C. M., Hastings, P., & Lupski, J. R.
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2012-06
- Volume
- 22
- Issue
- 3
- Pages
- 211-220
- ISSN
- 0959-437X (ISSN-L)
- OpenAlex
- W1968206926
- Cited by
- 344
- References
- 11
- FWCI
- 5.71
- Type
- journal article
- Language
- en
- Open access
- green
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