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Article

Targeted Genomic Region Masking Supports Accurate Variant Calling While Suppressing Low-Complexity Sequencing Artifacts.

Genes - 30 Jun 2026

Kaligerou Chrysoula, Tsagkalidou Athina, Pogka Vasiliki, Tremoulis Dimitrios Christos, Karamitros Timokratis

Abstract excerpt

Background: False-positive variant calls generated within low-complexity regions (LCRs) remain a persistent bottleneck in clinical genomics, complicating downstream analysis. This study evaluates a targeted spatial masking strategy designed to suppress deterministic artifacts in short-read sequencing data, while preserving clinically actionable variants residing outside LCRs. We implemented a selective masking...

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PMID: 42510812
DOI: 10.3390/genes17070772
PMCID: PMC13408233

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