The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

PURPOSE AND SCOPE: The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. Th...

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Vydáno v:J Med Genet
Hlavní autoři: Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2015
Témata:
Clinical Guidelines
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501167/
https://ncbi.nlm.nih.gov/pubmed/25951830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103144
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