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Next-generation diagnostics and disease-gene discovery with the Exomiser

2015453 citationsJournal Article

Authors

Damian Smedley · Wellcome Sanger Institute

Julius O.B. Jacobsen · Wellcome Sanger Institute

Marten Jäger · Berlin-Brandenburger Centrum für Regenerative Therapien

Sebastian Köhler · Charité - Universitätsmedizin Berlin

Manuel Holtgrewe · Berlin Institute of Health at Charité - Universitätsmedizin Berlin

Max Schubach · Charité - Universitätsmedizin Berlin

Enrico Siragusa

Topics & Keywords

Genomics and Rare Diseases Genomics and Phylogenetic Studies Bioinformatics and Genomic Networks

Publication Details

Published in: Nature Protocols

Volume 10, Issue 12, pp. 2004-2015

DOI: 10.1038/nprot.2015.124

Field-Weighted Citation Impact: 16.57

Next-generation diagnostics and disease-gene discovery with the Exomiser | Researchclopedia

· Berlin Institute of Health at Charité - Universitätsmedizin Berlin

Tomasz Żemojtel · Vivantes Klinikum

Orion J. Buske · University of Toronto

Nicole Washington · Lawrence Berkeley National Laboratory

William P. Bone · National Institutes of Health

Melissa Haendel · Oregon Health & Science University

Peter N. Robinson · Berlin-Brandenburger Centrum für Regenerative Therapien