| Autor | Carvalho, Claudia Márcia Benedetto de | |
| Autor | Lupski, James R. | |
| Data de acesso | 2017-01-05T16:25:14Z | |
| Data de disponibilização | 2017-01-05T16:25:14Z | |
| Data do publicação | 2016 | |
| Citação | CARVALHO, Claudia Marcia Benedetto de; LUPSKI, James R. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet., vol. 17, n. 4, p. 224-38, 2016. | pt_BR |
| ISSN | 1471-0056 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/16737 | |
| Idioma | eng | pt_BR |
| Editor | Nature Pub. Group | pt_BR |
| Direito Autoral | restricted access | pt_BR |
| Palavras-chave | genômica | pt_BR |
| Título | Mechanisms underlying structural variant formation in genomic disorders | pt_BR |
| Tipo do documento | Article | |
| DOI | 10.1038/nrg.2015.25 | |
| Resumo em Inglês | With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture in the formation of structural variants at a given locus, both in DNA recombination-based processes and in replication-based processes. These reports showcase the influence of repeat sequences on genomic stability and structural variant complexity and also highlight the tremendous plasticity and dynamic nature of our genome in evolution, health and disease susceptibility. | pt_BR |
| Afiliação | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brasil | pt_BR |
| Afiliação | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Baylor College of Medicine. Department of Pediatrics. Houston, TX, USA/Baylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USA/Texas Children’s Hospital. Houston, TX, USA | pt_BR |
| Data de embargo | 2025-01-01 | |
