Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Chloe MightonAmanda C SmithJustin MayersRobert TomaszewskiSherryl TaylorStacey HumeRon AgatepElizabeth SpriggsHarriet E FeilotterLaura SemenukHenry WongLorena Lazo de la VegaChristian R MarshallMichelle M AxfordTalia SilverGeorge S CharamesVanessa Di GioacchinoNicholas WatkinsWilliam D FoulkesMarcos ClavierNancy HamelGeorge ChongRyan E LamontJillian ParboosinghAly KarsanIan BosdetSean S YoungTracy TuckerMohammad Reza AkbariMarsha D SpeevakAndrea K VaagsMatthew S LeboJordan Lerner- Ellisnull null

Published in: Journal of medical genetics (2021)

The COGR provides a standardised mechanism for laboratories to identify discordant variant interpretations and reduce discordance in genetic test result delivery. Such quality assurance programmes are important as genetic testing is implemented more widely in clinical care.

Keyphrases

healthcare
minimally invasive
palliative care
electronic health record
genome wide
quality improvement
health information
social media
copy number
affordable care act
gene expression
dna methylation
health insurance