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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Abstract:

Background: A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results.
Methods: We report a consecutive case seri...

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Publication status:
Published
Peer review status:
Peer reviewed

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Files:
Publisher copy:
10.1186/s13073-019-0651-9

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
ORCID:
0000-0003-3602-5704
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Institution:
University of Oxford
Division:
SE-Other
Department:
External
Role:
Author
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Publisher:
BioMed Central Publisher's website
Journal:
Genome Medicine Journal website
Volume:
11
Article number:
46
Publication date:
2019-07-25
Acceptance date:
2019-06-10
DOI:
EISSN:
1756-994X
ISSN:
1756-994X
Pmid:
31345272
Source identifiers:
1035789
Language:
English
Keywords:
Pubs id:
pubs:1035789
UUID:
uuid:eb87749a-8e78-4be0-9699-c609a5a944a2
Local pid:
pubs:1035789
Deposit date:
2019-08-05

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