Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing genetic diseases, whereas chromosomal microarray (CMA) is well established. Here we compared the diagnostic utility (rate of causative,...

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Detalles Bibliográficos
Autores principales: Clark, Michelle M., Stark, Zornitza, Farnaes, Lauge, Tan, Tiong Y., White, Susan M., Dimmock, David, Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037748/
https://www.ncbi.nlm.nih.gov/pubmed/30002876
http://dx.doi.org/10.1038/s41525-018-0053-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037748/
https://www.ncbi.nlm.nih.gov/pubmed/30002876
http://dx.doi.org/10.1038/s41525-018-0053-8

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