안과 영역에서의 차세대 염기서열 분석

• 영문명: Next-generation Sequencing in Inherited Eye Diseases
• 발행기관: 대한검안학회
• 저자명: 한진우(Jinu Han)
• 간행물 정보: 『Annals of optometry and contact lens』Vol.17 No.4, 89~96쪽, 전체 8쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2018.12.30

영문 초록

Next-generation sequencing is widely used in inherited diseases and cancer genetics fields. Next-generation sequencing technology provides accurate diagnosis in genetically heterogeneous disorders such as retinitis pigmentosa, Leber congenital amaurosis, or cone-rod dystrophy. However, the precise interpretation of variants produced by massively parallel sequencing is somewhat difficult to most of ophthalmologists, and misinterpretation of these variants lead to unwanted devastating consequences to the patients and their family. The molecular genetic findings need to be carefully evaluated in the context of the clinical findings to avoid misdiagnosis. Gene therapy trials are already in the market for specific forms of Leber congenital amaurosis. We are in the middle of exiting era of effective treatment for patients with inherited eye diseases, which was considered as incurable in the past. To success such a treatment, molecular diagnosis will become essential.

목차

서 론

Sequencing 장비의 선택

NGS 데이터의 data pre-processing 및 SNP/INDEL calling

Variant annotation/filtering

Interpretation of variants

자세한 표현형의 기록 및 조사

안과에서의 적용

NGS의 한계점

결 론

REFERENCES

키워드

Inherited eye disease Inherited retinal disease Next-generation sequencing