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Updated: Jan 8, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

低複雑性領域における構造変異検出の課題

Qian Qin¹, Heng Li^2,3,4

¹Division of Rheumatology, Inflammation and Immunity, Brigham Women's Hospital, Boston, MA 02115, USA.

|December 12, 2025

要旨

Background:

Structural variants (SVs) are genomic differences $\ge$50 bp in length. They remain challenging to detect, even with long-sequence reads, and the sources of these difficulties are not well quantified.

Results:

We identified 35.4 Mb of low-complexity regions (LCRs) in GRCh38. Although these regions cover only 1.2% of the genome, they contain 69.1% of confident SVs in sample HG002. Across long-read SV callers, 77.3-91.3% of erroneous SV calls occur within LCRs, with error rates increasing with LCR length.

Conclusion:

SVs are enriched and difficult to call in LCRs. Special care needs to be taken for calling and analyzing these variants.

キーワード:

評価低複雑性領域構造変異

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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