A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of copy number variants (CNVs) of unc...

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Detalles Bibliográficos
Autores principales: Ahn, Joo Wook, Bint, Susan, Irving, Melita D., Kyle, Phillipa M., Akolekar, Ranjit, Mohammed, Shehla N., Mackie Ogilvie, Caroline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2014
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006225/
https://www.ncbi.nlm.nih.gov/pubmed/24795849
http://dx.doi.org/10.7717/peerj.354

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