Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system
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Published:2024-05
Issue:5
Volume:5
Page:101518
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ISSN:2666-3791
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Container-title:Cell Reports Medicine
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language:en
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Short-container-title:Cell Reports Medicine
Author:
Forrest Iain S.,
Duffy Áine,
Park Joshua K.,
Vy Ha My T.,
Pasquale Louis R.,
Nadkarni Girish N.,
Cho Judy H.,
Do RonORCID