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Successful Application of Genome Sequencing in a Diagnostic Setting: 1007 Index Cases from a Clinically Heterogeneous Cohort

Aida M. Bertoli-Avella,Christian Beetz,Najim Ameziane,Maria Eugenia Rocha, Pilar Guatibonza,Catarina Pereira,Maria Calvo,Natalia Herrera-Ordonez,Monica Segura-Castel,Dan Diego-Alvarez,Michal Zawada,Krishna K. Kandaswamy,Martin Werber,Omid Paknia,Susan Zielske,Dimitar Ugrinovski,Gitte Warnack,Kapil Kampe,Marius-Ionuț Iurașcu,Claudia Cozma,Florian Vogel,Amal Alhashem,Jozef Hertecant,Aisha M. Al-Shamsi,Abdulrahman Faiz Alswaid,Wafaa Eyaid,Fuad Al Mutairi,Ahmed Alfares,Mohammed A. Albalwi,Majid Alfadhel,Nouriya Abbas Al-Sannaa,Willie Reardon,Yasemin Alanay,Arndt Rolfs,Peter Bauer

European Journal of Human Genetics（2020）

Cited 83|Views56
Key words
Genetics research,Genomics,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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