DRAGEN optimizes genomic variant detection

IF 31.7 1区 生物学 Q1 GENETICS & HEREDITY Nature genetics Pub Date : 2024-12-09 DOI:10.1038/s41588-024-02042-9
Wei Li
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DRAGEN优化基因组变异检测
用于全面变异检测的软件开发将增强我们对人类基因组的理解。Behera等人介绍了一种方法,基因组学动态读取分析(DRAGEN),在Illumina的全基因组测序平台上大规模和准确地识别所有类型的基因组变异。DRAGEN变体调用管道提高了变体检测的准确性,并通过实现优化的概念,例如使用泛基因组参考的多基因组映射和基于机器学习的过滤的变体调用,实现了更全面的见解。DRAGEN能够检测整个变异,包括单核苷酸变异(snv)、拷贝数变异(cnv)、结构变异(SVs)、短串联重复序列(STRs),以及临床相关基因的准确基因分型。DRAGEN多基因组映射器在准确性和速度上优于现有的泛基因组实现,并结合了CNV和SV调用,与其他最先进的方法相比,在变异检测方面有了实质性的改进。当将DRAGEN应用于诸如1000基因组计划之类的大型数据集时,DRAGEN允许处理不同人群中的所有不同变体类别,为全面的基因组分析和未来医学相关基因的研究提供了潜力。原始参考文献:Nat. biotechnology。https://doi.org/10.1038/s41587 - 024 - 02382 - 1 (2024)
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来源期刊
Nature genetics
Nature genetics 生物-遗传学
CiteScore
43.00
自引率
2.60%
发文量
241
审稿时长
3 months
期刊介绍: Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution
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