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Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

Lookup NU author(s): Daniyal Daud, Dr Helen Griffin, Dr Konstantinos Douroudis, Gail Eglon, Dr Angela Pyle, Professor Patrick Chinnery, Professor Rita Horvath



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2015

Volume: 262

Issue: 7

Pages: 1673-1677

Print publication date: 01/07/2015

Online publication date: 20/05/2015

Acceptance date: 12/04/2015

Date deposited: 15/07/2015

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer


DOI: 10.1007/s00415-015-7755-y

PubMed id: 25957632


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