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2015 ; 52
(7
): 438-45
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as
a community resource for standardising and sharing genetic interpretations
#MMPMID25904639
Lerner-Ellis J
; Wang M
; White S
; Lebo MS
J Med Genet
2015[Jul]; 52
(7
): 438-45
PMID25904639
show ga
BACKGROUND: The Canadian Open Genetics Repository is a collaborative effort for
the collection, storage, sharing and robust analysis of variants reported by
medical diagnostics laboratories across Canada. As clinical laboratories adopt
modern genomics technologies, the need for this type of collaborative framework
is increasingly important. METHODS: A survey to assess existing protocols for
variant classification and reporting was delivered to clinical genetics
laboratories across Canada. Based on feedback from this survey, a variant
assessment tool was made available to all laboratories. Each participating
laboratory was provided with an instance of GeneInsight, a software featuring
versioning and approval processes for variant assessments and interpretations and
allowing for variant data to be shared between instances. Guidelines were
established for sharing data among clinical laboratories and in the final
outreach phase, data will be made readily available to patient advocacy groups
for general use. RESULTS: The survey demonstrated the need for improved
standardisation and data sharing across the country. A variant assessment
template was made available to the community to aid with standardisation.
Instances of the GeneInsight tool were provided to clinical diagnostic
laboratories across Canada for the purpose of uploading, transferring, accessing
and sharing variant data. CONCLUSIONS: As an ongoing endeavour and a permanent
resource, the Canadian Open Genetics Repository aims to serve as a focal point
for the collaboration of Canadian laboratories with other countries in the
development of tools that take full advantage of laboratory data in diagnosing,
managing and treating genetic diseases.