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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Software
/
Sequence Analysis, DNA
/
Genetic Association Studies
/
High-Throughput Nucleotide Sequencing
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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