Evidence map›Paper›PMID 41162409›Full record

ArticleNPJ genomic medicine2025

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

Li-Ling Lin, Pei-Miao Chien, Tzu-Hung Hsiao, Han-Yu Ye, Shu-Hsuan Liu, Tsang-Ming Ko, Chien-Hao Huang, Pei-Lung Chen, Wen-Chun Chen, Yuh-Tsyr Chou and 4 more

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Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Li-Ling LinDepartment of Obstetrics and Gynaecology, Taichung Veterans General Hospital, Taichung, Taiwan.
Pei-Miao ChienGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.
Tzu-Hung HsiaoDepartment of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
Han-Yu YeDepartment of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
Shu-Hsuan LiuDepartment of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
Tsang-Ming KoGenephile Bioscience Laboratory, Ko's Obstetrics and Gynaecology, Taipei, Taiwan.
Chien-Hao HuangGenephile Bioscience Laboratory, Ko's Obstetrics and Gynaecology, Taipei, Taiwan.
Pei-Lung ChenGraduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
Wen-Chun ChenDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Yuh-Tsyr ChouDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Chao-Szu WuDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Hung-Hsin ChenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Yin-Hsiu ChienGraduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
Jacob Shu-Jui HsuGraduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. jacobhsu@ntu.edu.tw.

Funding

National Science and Technology Council NSTC 111-2320-B-002-091-MY3, 112-2622-B-002-012National Taiwan University Higher Education Sprout Project 114L891101
6 · The paper itself

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.

Identifiers

PMID41162409
PMCPMC12572182

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.