Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

PURPOSE: Next-generation sequencing has implicated some risk variants for human spina bifida (SB), but the genome-wide contribution of structural variation to this complex genetic disorder remains largely unknown. We examined copy-number variant (CNV) participation in the genetic architecture underl...

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Detalles Bibliográficos
Autores principales: Wolujewicz, Paul, Aguiar-Pulido, Vanessa, AbdelAleem, Alice, Nair, Vidya, Thareja, Gaurav, Suhre, Karsten, Shaw, Gary M., Finnell, Richard H., Elemento, Olivier, Ross, M. Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257499/
https://www.ncbi.nlm.nih.gov/pubmed/33686259
http://dx.doi.org/10.1038/s41436-021-01126-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257499/
https://www.ncbi.nlm.nih.gov/pubmed/33686259
http://dx.doi.org/10.1038/s41436-021-01126-9

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