Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Trujillano, Daniel; M. Bertoli‐Avella, Aida; Kumar Kandaswamy, Krishna; E. R. Weiss, Maximilian; Köster, Julia; Marais, Anett; Paknia, Omid; Schröder, Rolf; María García-Aznar, José; Werber, Martin; Brandau, Oliver; Calvo, María; Baldi, Caterina; Wessel, Karen; Kishore, Shivendra; Nahavandi, Nahid; Eyaid, Wafaa; T. Al Rifai, Muhammad; Al‐Rumayyan, Ahmed; Altwaijri, Waleed; Alothaim, Ali; Alhashem, Amal; Al‐Sannaa, Nouriya; Al Balwi, Mohammed; Alfadhel, Majid; Rolfs, Arndt; Abou Jamra, Rami

doi:10.1038/ejhg.2016.146

Public

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Published in European Journal of Human Genetics • Nov 16, 2016

Authors:

Daniel Trujillano

Aida M. Bertoli‐Avella

Krishna Kumar Kandaswamy

Abstract

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified th...

Subject

Exome sequencing

Medical diagnosis

Medical genetics

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