Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan

This study aimed to evaluate the feasibility of whole-genome sequencing (WGS) combined with computational tools for spinal muscular atrophy (SMA) carrier screening and disease diagnosis in Taiwan. WGS data from 1492 Taiwan Biobank participants and two patients with SMA were analysed to determine the SMN1 and SMN2 copy numbers using Illumina DRAGEN SMN Caller and validated by multiplex ligation-dependent probe amplification (MLPA). Among 1480 samples analysed, 23 SMA carriers were identified, yielding a carrier frequency of 1.55%. MLPA confirmed the accuracy of SMN1 and SMN2 copy number results detected using WGS. Both patients with SMA presented compound heterozygous variants with one SMN1 copy loss and the other SMN1 variant, specifically SMN1,c.815A>G, and SMN1,c.81+2_81+3delTG, respectively. Taken together, combining WGS with advanced bioinformatics tools is a feasible and promising approach for SMA carrier screening and disease diagnosis.

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Publication Details

Journal
npj Genomic Medicine
Published
2025-10-29
DOI
https://doi.org/10.1038/s41525-025-00524-1
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan

Yin‐Hsiu Chien, Chao-Szu Wu, Pei‐Lung Chen, Yuh-Tsyr Chou et al.
npj Genomic Medicine
Neurogenetic and Muscular Disorders Research
article

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan

Yin‐Hsiu Chien, Chao-Szu Wu, Pei‐Lung Chen, Yuh-Tsyr Chou, Chien‐Hao Huang, Po‐Hsiu Chien, Wei‐June Chen, Li‐Ling Lin, Han-Yu Ye, Hung‐Hsin Chen, Jacob Shujui Hsu, Tzu‐Hung Hsiao, S.-S. Liu, Tsang‐Ming Ko
article en

Abstract

This study aimed to evaluate the feasibility of whole-genome sequencing (WGS) combined with computational tools for spinal muscular atrophy (SMA) carrier screening and disease diagnosis in Taiwan. WGS data from 1492 Taiwan Biobank participants and two patients with SMA were analysed to determine the SMN1 and SMN2 copy numbers using Illumina DRAGEN SMN Caller and validated by multiplex ligation-dependent probe amplification (MLPA). Among 1480 samples analysed, 23 SMA carriers were identified, yielding a carrier frequency of 1.55%. MLPA confirmed the accuracy of SMN1 and SMN2 copy number results detected using WGS. Both patients with SMA presented compound heterozygous variants with one SMN1 copy loss and the other SMN1 variant, specifically SMN1,c.815A>G, and SMN1,c.81+2_81+3delTG, respectively. Taken together, combining WGS with advanced bioinformatics tools is a feasible and promising approach for SMA carrier screening and disease diagnosis.

npj Genomic MedicineVol. 10(1)
National Taiwan University (TW), Bioscience Research (US), Taichung Veterans General Hospital (TW), Institute of Biomedical Sciences, Academia Sinica (TW), National Taiwan University Hospital (TW), Taipei Medical University (TW)
Taiwan Biobank, National Taiwan University Hospital, National Taiwan University, Taichung Veterans General Hospital, National Science and Technology Council
Openalex Percentile: Top 56%
Neurogenetic and Muscular Disorders Research
DOIOpen Access PDFOpenAlex
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