Clinical application of next generation sequencing in molecular diagnosis of intellectual disability/global developmental delay / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
;
(12): 84-88, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-746251
ABSTRACT
Intellectual disability (ID) is a group of neurodevelopmental disorders with high heterogeneous in both genotypes and phenotypes and its definitive diagnosis is increasingly dependent ongenome-wide molecular diagnostics.Based on next generation sequencing(NGS), panel sequencing, whole exome sequencing (WES) and even whole genome sequencing are well applied to the molecular diagnosis of ID. Based on these, we recommend WES, especially trio-WES as the preferred detection method. NGS data analysis and reanalysis for ID have clinical significance for diagnosis, and can detect small scale variation and copy number variation in the genome reliably. Therefore, it has the potential to become the next recommended molecular diagnostic toolfor ID.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Laboratory Medicine
Year:
2019
Type:
Article
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