A Fully Integrated Genetic Variant Discovery SoC for Next-Generation Sequencing

📋 论文概要

本文提出了一款完全集成的遗传变异发现SoC，用于加速下一代测序（NGS）数据分析。该芯片旨在解决人类基因组变异分析耗时数天的问题，通过专用硬件加速缩短处理时间。

💡 主要创新点

• 首次实现了完全集成的遗传变异发现SoC，将测序数据比对、变异检测等步骤硬件化，大幅提升处理速度。
• 采用领域特定处理器架构，针对NGS算法优化计算和数据流，在功耗和性能间取得平衡。

🏷 关键词

📄 原文摘要

Chao-Yang Yu3, Nian-Shyang Chang3, Ling-Chien Chen3, Jia-Rong Chang3, Chun-Pin Lin3, Hung-Lieh Chen3, Chi-Shi Chen3, Jui-Hung Hung2, Chia-Hsiang Yang1 National Taiwan University, Taipei, Taiwan National Chiao Tung University, Hsinchu, Taiwan 3 Taiwan Semiconductor Research Institute, Hsinchu, Taiwan *Equally-Credited Authors (ECAs) 1 2 Next-generation sequencing (NGS) is now indispensable for genetics research and biomedical applications, such as disease analysis and evolution tracking [1]. However, it still takes up to a couple of days to analyze all genetic mutations (variants) of a human genome, which consists of 3 billion nucleotides, through GPU acceleration. Fig. 21.1.1 shows an overview of NGS and the data analysis workflow. The NGS technology enables sequencing hundreds of millions of DNA segments, anchored and amplified on a microarray, in parallel. In each sequencing cycle, the nucleotides (A, T, C, G) are individually detected by their unique

👥 作者与机构

Yi-Chung Wu*1, Yen-Lung Chen*1, Chung-Hsuan Yang1, Chao-Hsi Lee2,