The impact of clinical genome sequencing in a global population with suspected rare genetic disease
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Published:2024-07
Issue:7
Volume:111
Page:1271-1281
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Thorpe ErinORCID, 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, Vanderver Adeline, Muirhead Kayla, Sherbini Omar, Lah Melissa D., Anderson Katelynn, Bazalar-Montoya Jeny, Rodriguez Richard S., Cornejo-Olivas Mario, Milla-Neyra Karina, Shinawi Marwan, Magoulas Pilar, Henry Duncan, Gibson Kate, Wiafe Samuel, Jayakar Parul, Salyakina Daria, Masser-Frye Diane, Serize Arturo, Perez Jorge E., Taylor Alan, Shenbagam Shruti, Abou Tayoun Ahmad, Malhotra Alka, Bennett Maren, Rajan Vani, Avecilla James, Warren Andrew, Arseneault Max, Kalista Tasha, Crawford Ali, Ajay Subramanian S., Perry Denise L., Belmont John, Taft Ryan J.
Reference24 articles.
1. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database;Nguengang Wakap;Eur. J. Hum. Genet.,2020 2. Noncommunicable Diseases;Hunter;N. Engl. J. Med.,2013 3. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases;Bick;J. Med. Genet.,2019 4. Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial;Dicken,2021 5. Accelerating Access to Genomics for Global Health: Promotion, Implementation, Collaboration, and Ethical, Legal, and Social Issues: A Report of the WHO Science Council,2022
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