Towards accurate and reliable resolution of structural variants for clinical diagnosis.

TitleTowards accurate and reliable resolution of structural variants for clinical diagnosis.
Publication TypeJournal Article
Year of Publication2022
AuthorsLiu, Z, Roberts, R, Mercer, TR, Xu, J, Sedlazeck, FJ, Tong, W
JournalGenome Biol
Volume23
Issue1
Pagination68
Date Published2022 Mar 03
ISSN1474-760X
KeywordsGenomic Structural Variation, Phenotype, Reproducibility of Results
Abstract

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.

DOI10.1186/s13059-022-02636-8
Alternate JournalGenome Biol
PubMed ID35241127
PubMed Central IDPMC8892125
Grant ListU01 HG011758 / HG / NHGRI NIH HHS / United States
UM1 HG008898 / HG / NHGRI NIH HHS / United States

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