Ending Sawyer’s 8-Year Diagnostic Odyssey

2020년 7월 21일

Sawyer’s journey to a diagnosis began in utero. Admitted at birth to the NICU, Sawyer has been resilient in the face of multiple misdiagnoses, multiple specialists and many uninformative tests. Following normal exome sequencing, Sawyer was accepted by the Undiagnosed Diseases Network, where whole genome sequencing finally ended the 8 year search for an answer, identifying a variant in TRIP12 (Thyroid Hormone ReceptorInteractor 12). Subscribe to the Illumina video channel http://www.youtube.com/subscription_center?add_user=IlluminaInc A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015. View customer spotlight videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajfheLzgbI4S7xBn7IDbt79 View Illumina webinars https://www.youtube.com/playlist?list=PLKRu7cmBQlahpXlnrrXlQw9itVJ8yHwUZ View Illumina product videos https://www.youtube.com/playlist?list=PLKRu7cmBQlaj6YuZmkfxZcT9twqDgP2Xd View Illumina support videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajbm2KGsICWb-JOnusJfYvM

다음을 통해 기사 공유하기: