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Buske et al., 2015 - Google Patents

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

Buske et al., 2015

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Document ID
18256059235095111893
Author
Buske O
Girdea M
Dumitriu S
Gallinger B
Hartley T
Trang H
Misyura A
Friedman T
Beaulieu C
Bone W
Links A
Washington N
Haendel M
Robinson P
Boerkoel C
Adams D
Gahl W
Boycott K
Brudno M
Publication year
Publication venue
Human mutation

External Links

Snippet

The discovery of disease‐causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case …
Continue reading at onlinelibrary.wiley.com (PDF) (other versions)

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    • G06F19/32—Medical data management, e.g. systems or protocols for archival or communication of medical images, computerised patient records or computerised general medical references
    • G06F19/322—Management of patient personal data, e.g. patient records, conversion of records or privacy aspects
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
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