Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

We examined the utility of clinical and research processes in the reanalysis of publicly‐funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases tested between 2014 and 2020. Data from seven laboratorie...

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Veröffentlicht in:	Clinical genetics 2023-03, Vol.103 (3), p.288-300
Hauptverfasser:	Hartley, Taila, Soubry, Élisabeth, Acker, Meryl, Osmond, Matthew, Couse, Madeline, Gillespie, Meredith K., Ito, Yoko, Marshall, Aren E., Lemire, Gabrielle, Huang, Lijia, Chisholm, Caitlin, Eaton, Alison J., Price, E. Magda, Dowling, James J., Ramani, Arun K., Mendoza‐Londono, Roberto, Costain, Gregory, Axford, Michelle M., Szuto, Anna, McNiven, Vanda, Damseh, Nadirah, Jobling, Rebekah, Kock, Leanne, Mojarad, Bahareh A., Young, Ted, Shao, Zhuo, Hayeems, Robin Z., Graham, Ian D., Tarnopolsky, Mark, Brady, Lauren, Armour, Christine M., Geraghty, Michael, Richer, Julie, Sawyer, Sarah, Lines, Matthew, Mercimek‐Andrews, Saadet, Carter, Melissa T., Graham, Gail, Kannu, Peter, Lazier, Joanna, Li, Chumei, Aul, Ritu B., Balci, Tugce B., Dlamini, Nomazulu, Badalato, Lauren, Guerin, Andrea, Walia, Jagdeep, Chitayat, David, Cohn, Ronald, Faghfoury, Hanna, Forster‐Gibson, Cynthia, Gonorazky, Hernan, Grunebaum, Eyal, Inbar‐Feigenberg, Michal, Karp, Natalya, Morel, Chantal, Rusnak, Alison, Sondheimer, Neal, Warman‐Chardon, Jodi, Bhola, Priya T., Bourque, Danielle K., Chacon, Inara J., Chad, Lauren, Chakraborty, Pranesh, Chong, Karen, Doja, Asif, Goh, Elaine Suk‐Ying, Saleh, Maha, Potter, Beth K., Marshall, Christian R., Dyment, David A., Kernohan, Kristin, Boycott, Kym M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Exome Sequencing Genetic disorders Genetic Testing - methods healthcare system Humans Laboratories matchmaking Medical laboratories Ontario - epidemiology rare disease reanalysis Research methodology Translation
Online-Zugang:	Volltext
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