Exome/Genome Sequencing in Undiagnosed Syndromes

Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels, has enabled previously unimaginable diagnoses...

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Detalles Bibliográficos
Autores principales: Sullivan, Jennifer A., Schoch, Kelly, Spillmann, Rebecca C., Shashi, Vandana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483513/
https://www.ncbi.nlm.nih.gov/pubmed/36706750
http://dx.doi.org/10.1146/annurev-med-042921-110721

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483513/
https://www.ncbi.nlm.nih.gov/pubmed/36706750
http://dx.doi.org/10.1146/annurev-med-042921-110721

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