Towards accurate and reliable resolution of structural variants for clinical diagnosis

Structural variants (SVs) are a major source of human genetic diversity and have been associated with different diseases and phenotypes. The detection of SVs is difficult, and a diverse range of detection methods and data analysis protocols has been developed. This difficulty and diversity make the...

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Bibliographic Details
Published in:Genome Biology 2022-03, Vol.23 (1), p.68-68, Article 68
Main Authors: Liu, Zhichao, Roberts, Ruth, Mercer, Timothy R, Xu, Joshua, Sedlazeck, Fritz J, Tong, Weida
Format: Article
Language:English
Subjects:
detection limit
genetic variation
genome
Genomic Structural Variation
humans
Phenotype
Reproducibility of Results
Review
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Summary:Structural variants (SVs) are a major source of human genetic diversity and have been associated with different diseases and phenotypes. The detection of SVs is difficult, and a diverse range of detection methods and data analysis protocols has been developed. This difficulty and diversity make the detection of SVs for clinical applications challenging and requires a framework to ensure accuracy and reproducibility. Here, we discuss current developments in the diagnosis of SVs and propose a roadmap for the accurate and reproducible detection of SVs that includes case studies provided from the FDA-led SEquencing Quality Control Phase II (SEQC-II) and other consortium efforts.
ISSN:1474-760X
1474-7596
1474-760X
DOI:10.1186/s13059-022-02636-8