Improved Variant Prioritization for Clinical Sequencing
- 详细技术说明
- Researchers at Nationwide Children's Hospital have optimized a exome-based mapping and variant prioritization solution for inherited mendelian disorders.
- *Abstract
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Next-generation sequencing (NGS) technologies have fundamentally changedthe field of human genetics, and hold numerous potential for improving clinicalcare. Physicians rely on NGS-based tests- either panel tests that examine asmall number of genes, or whole-exome sequencing (WES) assays that analyze in allapprox. 20,000 genes- to aid in disease diagnosis and treatment. Researchers at Nationwide Children's Hospitalhave optimized an exome-based mappingand variant prioritization solution for rare inherited disorders
- *Inquiry
- Andrew CorrisThe Research Institute at Nationwide Children’s HospitalOffice of Technology Commercialization700 Children’s DriveColumbus, OH 43205T: (614) 355-1604 F: (614) 722-2716Andrew.Corris@nationwidechildrens.org
- *IP Issue Date
- None
- *IP Type
- Other Patent
- 国家
- Not Available
- 申请号码
- None
- 国家/地区
- 美国
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