Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres

In recent years, chromosomal microarrays have been widely adopted by clinical diagnostic laboratories for postnatal constitutional genome analysis and have been recommended as the first-line test for patients with intellectual disability, developmental delay, autism and/or congenital abnormalities....

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Detalles Bibliográficos
Autores principales: Jezkova, Jana, Heath, Jade, Williams, Angharad, Barrell, Deborah, Norton, Jessica, Collinson, Morag N., Beal, Sarah J., Corrin, Sian, Morgan, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374691/
https://www.ncbi.nlm.nih.gov/pubmed/32714564
http://dx.doi.org/10.1038/s41525-020-0136-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374691/
https://www.ncbi.nlm.nih.gov/pubmed/32714564
http://dx.doi.org/10.1038/s41525-020-0136-1

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