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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 GriffinORCiD, Dr Konstantinos Douroudis, Gail Eglon, Dr Angela Pyle, Professor Patrick Chinnery, Professor Rita HorvathORCiD



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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Funder referenceFunder name
Wellcome Trust
Medical Research Council
National Institute for Health Research
National Institute for Health Research Biomedical Research Centre for Ageing
Newcastle upon Tyne Foundation Hospitals National Health Service Trust
309548European Research Council
G1000848Medical Research Council (UK)
101876/Z/13/ZWellcome Trust