Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to establish the genetic diagnosis, and to asses diagnostic yield and clinical impact in patients with suspected genetic diseases. Local physicians ascertained pediatric patients who had no previous access to genetic testi...

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Detalles Bibliográficos
Autores principales: Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt
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/PMC7536406/
https://www.ncbi.nlm.nih.gov/pubmed/33083013
http://dx.doi.org/10.1038/s41525-020-00150-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536406/
https://www.ncbi.nlm.nih.gov/pubmed/33083013
http://dx.doi.org/10.1038/s41525-020-00150-z

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