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Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication

BACKGROUND: Intrachromosomal segmental duplications provide the substrate for non-allelic homologous recombination, facilitating extensive copy number variation in the human genome. Many multi-copy gene families are embedded within genomic regions with high levels of sequence identity (>95%) and...

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Detalles Bibliográficos
Autores principales: Cantsilieris, Stuart, Western, Patrick S, Baird, Paul N, White, Stefan J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035060/
https://www.ncbi.nlm.nih.gov/pubmed/24885186
http://dx.doi.org/10.1186/1471-2164-15-329