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Updated: Jun 7, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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SV4GD:专门用于遗传疾病的综合结构变异数据库

Lei Shi1, Sainan Zhang2, Ying Li1,3

  • 1National Health Commission Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, No.157 Baojian Road, Nangang District, Harbin 150081, China.

Nucleic acids research
|November 11, 2024
PubMed
概括

结构变异 (SVs) 是基因组多样性和人类疾病的关键. SV4GD数据库提供了一个用户友好的资源,用于探索这些遗传变异及其与疾病的联系,帮助研究和临床应用.

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