Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
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https://www.sciencedirect.com/science/article/pii/S2949774424006769Date
2024-01-01Author(s)
Thorpe, Erin
Duenas-Roque, Milagros
Cornejo-Olivas, Mario
Bazalar-Montoya, Jeny
Purizaca-Rosillo, Nelson
Rodriguez, Richard
Milla-Neyra, Karina
De La Torre-Hernandez, Carlos
Sarapura-Castro, Elison
Aima, Carolina Galarreta
Manassero-Morales, Gioconda
Chávez-Pasco, Giulliana
Celis-García, Luis
La Serna, Jorge
Taft, Ryan
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Show full item recordAbstract
Molecular genetic testing has limited access in many regions across the world, especially in developing countries. The iHope program philanthropically provides clinical genome sequencing (cGS) to individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing.
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