Understanding the application of genetic testing in practicing precision medicine for inherited ocular disease / 中华眼底病杂志
Chinese Journal of Ocular Fundus Diseases
; (6): 831-835, 2021.
Article
in Zh
| WPRIM
| ID: wpr-912414
Responsible library:
WPRO
ABSTRACT
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known diseasecausing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.
Full text:
1
Index:
WPRIM
Type of study:
Prognostic_studies
Language:
Zh
Journal:
Chinese Journal of Ocular Fundus Diseases
Year:
2021
Type:
Article