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Updated: Jun 4, 2025

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可扩展的变体呼叫表示:使遗传分析能够超越一百万个基因组

Timothy Poterba1,2,3, Christopher Vittal1,2,3, Daniel King1,2,3,4

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.

Bioinformatics (Oxford, England)
|December 24, 2024
PubMed
概括

变异调用格式 (VCF) 难以处理大型基因组测序数据集. 一个新的可扩展变异呼叫表示 (SVCR) 提供线性扩展,用于大规模的基因组数据分析和存储.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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