Detection limit of intragenic deletions with targeted array comparative genomic hybridization

BACKGROUND: Pathogenic mutations range from single nucleotide changes to deletions or duplications that encompass a single exon to several genes. The use of gene-centric high-density array comparative genomic hybridization (aCGH) has revolutionized the detection of intragenic copy number variations....

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Detalles Bibliográficos
Autores principales: Askree, S Hussain, Chin, Ephrem LH, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235222/
https://www.ncbi.nlm.nih.gov/pubmed/24304607
http://dx.doi.org/10.1186/1471-2156-14-116

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