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Human structural variation: mechanisms of chromosome rearrangements

Chromosome structural variation (SV) is a normal part of variation in the human genome, but some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA sequence at SV breakpoints can reveal mutational mechanisms and risk factors for chromosome rearrangement. Large-scale SV breakpo...

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Pubblicato in:Trends Genet
Autori principali: Weckselblatt, Brooke, Rudd, M. Katharine
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4600437/
https://ncbi.nlm.nih.gov/pubmed/26209074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tig.2015.05.010
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