Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.
Ching-Yuan WangYen-An TangI-Wen LeeFong-Ming ChangChun-Wei ChienHsien-An PanH Sunny SunPublished in: BMC medical genomics (2021)
An expanded panel for rapid and cost-effective genetic detection of SD has been developed. The established targeted-seq workflow shows high accuracy to detect both germline and low-frequency variants. In addition, the workflow is flexible to be conducted in the majority of the NGS instruments and ready for routine clinical application. Taken together, we believe the established panel provides a promising diagnostic or therapeutic strategy for prenatal genetic testing of SD in routine clinical practice.
Keyphrases
- clinical practice
- loop mediated isothermal amplification
- single cell
- genome wide
- cancer therapy
- copy number
- electronic health record
- pregnant women
- late onset
- rna seq
- dna repair
- gene expression
- dna methylation
- drug delivery
- patient reported outcomes
- dna damage
- label free
- amyotrophic lateral sclerosis
- quantum dots
- solid state