The Impact of Clinical Genome Sequencing in a Global Population with Suspected Rare Genetic Disease

Erin Thorpe, Taylor Williams,Chad Shaw, Evgenii Chekalin,Julia Ortega,Keisha Robinson, Jason Button,Marilyn C. Jones,Miguel del Campo,Donald Basel,Julie McCarrier,Laura Davis Keppen,Erin Royer, Romina Foster-Bonds,Milagros M. Duenas-Roque,Nora Urraca,Kerri Bosfield,Chester W. Brown, Holly Lydigsen,Henry J. Mroczkowski,Jewell Ward,Fabio Sirchia,Elisa Giorgio,Keith Vaux, Hildegard Pena Salguero,Aime Lumaka,Gerrye Mubungu,Prince Makay,Mamy Ngole,Prosper Tshilobo Lukusa,Adeline Vanderver,Kayla Muirhead,Omar Sherbini,Melissa D. Lah,Katelynn Anderson,Jeny Bazalar-Montoya,Richard S. Rodriguez,Mario Cornejo-Olivas,Karina Milla-Neyra,Marwan Shinawi,Pilar Magoulas,Duncan Henry, Kate Gibson,Samuel Wiafe,Parul Jayakar,Daria Salyakina,Diane Masser-Frye,Arturo Serize,Jorge E. Perez,Alan Taylor,Shruti Shenbagam,Ahmad Abou Tayoun,Alka Malhotra,Maren Bennett,Vani Rajan,James Avecilla, Andrew Warren, Max Arseneault,Tasha Kalista,Ali Crawford,Subramanian S. Ajay,Denise L. Perry,John Belmont,Ryan J. Taft

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Key words

whole-genome sequencing,rare genetic disease,rare disease,diagnostic equity,change of management,clinical genome testing,genetic testing,low- and middle-income,clinical utility

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