Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Rare genetic disorders, when considered together, are relatively common. Despite advancements in genetics and genomics technologies as well as increased understanding of genomic function and dysfunction, many genetic diseases continue to be difficult to diagnose. The goal of this Review is to increa...

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Detalles Bibliográficos
Autores principales: Schuler, Bryce A., Nelson, Erica T., Koziura, Mary, Cogan, Joy D., Hamid, Rizwan, Phillips, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Review Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8970663/
https://www.ncbi.nlm.nih.gov/pubmed/35362483
http://dx.doi.org/10.1172/JCI154942

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8970663/
https://www.ncbi.nlm.nih.gov/pubmed/35362483
http://dx.doi.org/10.1172/JCI154942

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