An overview of tools for post-analysis of high-throughput sequencing data in clinical study / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 508-512, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-771977
ABSTRACT
With the advance of high-throughout sequencing technology and its extensive application in clinical diagnosis, analysis of sequencing data has become an important part of clinical diagnosis. To date, the development and establishment of various software and databases have made it convenient to extract useful information from massive amounts of high-throughput sequencing data. However, it is still a challenge for correlating the clinical-genetic diagnosis based on the above-mentioned sequence data with the screened DNA variations and disease phenotypes. Further validation of the proposed pathogenesis with the discovered molecular defects are required. Here a comprehensive review is provided for the strategies of sequencing data analysis, commonly used phenotype-genotype correlation tools, and functional analysis and verification methods for the genetic diagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Programas Informáticos
/
Análisis de Secuencia de ADN
/
Estudios de Asociación Genética
/
Secuenciación de Nucleótidos de Alto Rendimiento
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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