The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
Open accessAbstract
Precisely characterizing the breakpoints of copy number variants (CNVs) is crucial for assessing their functional impact. However, fewer than 10% of known germline CNVs have been mapped to the single-nucleotide level. We characterized the sequence breakpoints from a dataset of all CNVs detected in three unrelated individuals in previous array-based CNV discovery experiments. We used targeted hybridization-based DNA capture and 454 sequencing to sequence 324 CNV breakpoints, including 315 deletions. We observed two major breakpoint signatures: 70% of the deletion breakpoints have 1−30 bp of microhomology, whereas 33% of deletion breakpoints contain 1−367 bp of inserted sequence. The co-occurrence of microhomology and inserted sequence is low (10%), suggesting that there are at least two different mutational mechanisms. Approximately 5% of the breakpoints represent more complex rearrangements, including local microinversions, suggesting a replication-based strand switching mechanism. Despite a rich literature on DNA repair processes, reconstruction of the molecular events generating each of these mutations is not yet possible.
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Cited by
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Self-citationGenome structural variation discovery and genotyping
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Self-citationMechanisms underlying structural variant formation in genomic disorders
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Haplotype-resolved diverse human genomes and integrated analysis of structural variation
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Metadata
- Authors
- Conrad, D. F., Bird, C., Blackburne, B., Lindsay, S., Mamanova, L., Lee, C., Turner, D. J., & Hurles, M. E.
- Venue
- Nature Genetics
- Published
- 2010-04-04
- Volume
- 42
- Issue
- 5
- Pages
- 385-391
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2052860512
- Cited by
- 257
- References
- 12
- FWCI
- 19.95
- Type
- journal article
- Language
- en
- Open access
- green
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