Blueprint Genetics
ثبت نشده
چکیده
Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders. In WES, protein-coding regions of all genes (~20,000) of the human genome, i.e. exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-causing mutations are located there.
منابع مشابه
Aorta Panel
The Blueprint Genetics Aorta Panel is an efficient genetic diagnostic tool targeted for aortic dilatation and aortic aneurysm diseases. The Aorta Panel covers 18 genes associated with non-syndromic and syndromic aortic disease. Most of the aortic aneurysms associate to non-syndromic dilatation. However, at least 20% of aortic aneurysms are in context of syndromic diseases such as Marfan syndrom...
متن کاملThe Integration of Genomics into Public Health Research, Policy and Practice in the United States.
Objectives: To examine the opportunities for and responsibilities of the public health community in bridging the gap between gene discovery and the application of genetic information to improve health and prevent disease. Methods: We developed genetics-related definitions for the core functions and essential services of public health. We combined these definitions with a visual model to create ...
متن کاملBrugada Syndrome Panel
Test code: CA0901 The Blueprint Genetics Brugada Syndrome Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis of suspicion of Brugada syndrome. Brugada syndrome has autosomal dominant pattern of inheritance. Genetic diagnosis can confirm clinical diagnosis and patient’s arrhythmia mechanism. Test results can also guide risk assessment and treatment strategies. I...
متن کاملBrugada Syndrome Panel
Test code: CA0901 The Blueprint Genetics Brugada Syndrome Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis of suspicion of Brugada syndrome. Brugada syndrome has autosomal dominant pattern of inheritance. Genetic diagnosis can confirm clinical diagnosis and patient’s arrhythmia mechanism. Test results can also guide risk assessment and treatment strategies. I...
متن کاملBrugada Syndrome Panel
Test code: CA0901 The Blueprint Genetics Brugada Syndrome Panel is an 11-gene test for genetic diagnostics of patients with clinical diagnosis of suspicion of Brugada syndrome. Brugada syndrome has autosomal dominant pattern of inheritance. Genetic diagnosis can confirm clinical diagnosis and patient’s arrhythmia mechanism. Test results can also guide risk assessment and treatment strategies. I...
متن کامل