An estimation of the prevalence of genomic disorders using chromosomal microarray data

Multiple genomic disorders result from recurrent deletions or duplications between low-copy repeat (LCR) clusters, mediated by nonallelic homologous recombination (NAHR). These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population preva...

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Detalles Bibliográficos
Autores principales: Gillentine, M.A., Lupo, P.J., Stankiewicz, P., Schaaf, C.P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019170/
https://www.ncbi.nlm.nih.gov/pubmed/29691480
http://dx.doi.org/10.1038/s10038-018-0451-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019170/
https://www.ncbi.nlm.nih.gov/pubmed/29691480
http://dx.doi.org/10.1038/s10038-018-0451-x

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