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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Veröffentlicht in:	Npj genomic medicine 2020-10, Vol.5 (1), p.44-44, Article 44
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1516 692/308/2056 692/4017 Bioinformatics Biomedical and Life Sciences Biomedicine Gene Function Gene Therapy Genetic disorders Human Genetics Internal Medicine
Online-Zugang:	Volltext
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