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Bartha Maria Knoppers

Researcher at McGill University

Publications -  516
Citations -  54285

Bartha Maria Knoppers is an academic researcher from McGill University. The author has contributed to research in topics: Biobank & Population. The author has an hindex of 63, co-authored 491 publications receiving 44965 citations. Previous affiliations of Bartha Maria Knoppers include Catholic University of the Sacred Heart & University of Alberta.

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Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

TL;DR: Recommendations for the use of whole-genome and whole-exome (WGS/WES) sequencing in clinical practice are proposed, endorsed by the board of directors of the Canadian College of Medical Geneticists and developed into comprehensive Canadian-based guidelines.
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Genomic databases access agreements: legal validity and possible sanctions

TL;DR: A review of different sanctions that could be invoked in cases of non-compliance from data users and the importance for researchers to undertake additional empirical studies on the clarity and accessibility of existing database access agreements and related policies in the near future.
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Oversight of Genomic Data Sharing: What Roles for Ethics and Data Access Committees?

TL;DR: This article suggests several mechanisms to achieve greater clarification of ethical considerations by research ethics and Data Access Committees, as well as greater communication and coordination between both to ensure robust and sustained ethical oversight of genomic data sharing.
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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Matthew S. Lebo, +113 more
- 01 Mar 2018 - 
TL;DR: A Canadian interinstitutional quality improvement program for DNA-variant interpretations will allow clinicians and patients to make more informed decisions and lead to better patient outcomes by Sharing of variant knowledge by clinical diagnostic laboratories.