category
bioRxiv
date
Mar 22, 2026
slug
status
Published
summary
提出统一框架利用局部多序列比对同时处理小变异、结构变异和嵌合变异;整合生殖细胞分型与逆转座子标志,首次实现单读长支持的移动元件插入检测;相比现有方法显著提升结构变异发现率和嵌合变异准确性。
tags
测序技术
type
Post
📄 原文题目
LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads
🔗 原文链接
💡 AI 核心解读
提出统一框架利用局部多序列比对同时处理小变异、结构变异和嵌合变异;整合生殖细胞分型与逆转座子标志,首次实现单读长支持的移动元件插入检测;相比现有方法显著提升结构变异发现率和嵌合变异准确性。
📝 英文原版摘要
Long-read sequencing is a powerful technique capturing multiple variants within single continuous reads. This length allows individual reads to bridge small and structural variants while carrying crucial phasing information. However, current computational tools treat small variant calling, structural variant (SV) detection and phasing as largely disconnected problems, failing to unleash the full potential of long reads. Here, we present longcallD, a unified framework utilizing local multiple-sequence alignment to simultaneously call and phase small and structural variants. By integrating germline phasing and retrotransposition hallmarks, longcallD also identifies low-fraction mosaic variants and detects mobile element insertions supported by a single read. Compared to existing methods, our unified approach substantially improves SV discovery and mosaic variants accuracy while maintaining competitive small variant calling. We anticipate that longcallD will provide a robust foundation for resolving complex genetic architectures in clinical and evolutionary applications.
- 作者:NotionNext
- 链接:https://tangly1024.com/article/32b48bd6-1f96-8162-b556-ed62a95cac37
- 声明:本文采用 CC BY-NC-SA 4.0 许可协议,转载请注明出处。
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