Browsing by Subject "Change of management"

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; Campo, Miguel del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo (Cell Press, 2024-05-06)
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There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a diverse population drawn from both ...