A targeted gene capture next-generation sequencing panel for genetic screening of newborns | [Journal of Pakistan Medical Association • 2020]

Author(s):

1. Qi Peng: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

2. Guojun Liu: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

3. Pengyuan Zhu: CapitalBio Genomics Co. Ltd, Dongguan, Guangdong, China.

4. Chunqiu Wu: CapitalBio Genomics Co. Ltd, Dongguan, Guangdong, China.

5. Xiaoguang He: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

6. Wenrui Li: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

7. Chunbao Rao: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

8. Siping Li: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

9. Xiaomei Lu: Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China

Abstract:

Objective: The application of next-generation sequencing (NGS) will greatly promote the screening and diagnosis of genetic diseases. This study aimed to implement and validate a targeted NGS panel for genetic screening of over fifty types of genetic disorders in newborns. Methods: A targeted gene panel consisting of 104 known genes related to genetic diseases with a target size of 347.8 kb was designed. Genes were selected through reference to databases including HGMD, OMIM, GeneReviews®, and Genetic Home Reference, and the latest peer-reviewed publications associated with the genetics of hereditary diseases. Results: The average coverage for all targeted exons was 596X, and the mean targeted region coverage of 1X, 10X, 20X and 50X reads for each sample were 99.8%, 99.2%, 98.8%, and 95.3%, respectively. The panel showed 100% consistency in detecting 8 pathogenic insertion/deletion (indels) variants ranging from 1 to 16 bp in size and 20 pathogenic single-nucleotide variations (SNVs) across 32 samples previously confirmed by Sanger sequencing. Conclusions: A dried blood spot (DBS)-based targeted NGS panel for efficient genetic screening of a wide variety of genetic diseases in newborns was developed and evaluated. Furthermore, our panel will contribute to providing accurate diagnosis for genetic disorders and will be helpful for gene therapy for specific diseases.

Page(s): 1789-1794

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 70, Issue: 10, Year: 2020

Keywords:

NextGeneration Sequencing , Inherited metabolic disorders , Dried blood spot , Gene therapy , Genetic screening

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