Cover Image

NGS (新一代測序)的資訊學解決方案:全球商業環境 (2017年)

The 2017 Market for NGS Informatics: Probing the Commercial Landscape

出版商 BioInformatics, LLC 商品編碼 547708
出版日期 內容資訊 英文 109 Pages
商品交期: 最快1-2個工作天內
Back to Top
NGS (新一代測序)的資訊學解決方案:全球商業環境 (2017年) The 2017 Market for NGS Informatics: Probing the Commercial Landscape
出版日期: 2017年08月08日 內容資訊: 英文 109 Pages

本報告提供以NGS (新一代測序) 資訊學產品的用戶為對象之使用概況調查結果,提供擔任NGS資料分析工作流程概要,使用中的平台·解決方案概要,工作流程及臨床環境的課題,產品·解決方案的要求,產品·解決方案的支出趨勢,預算及預算分配,並彙整軟體購買主要的決定因素等資料。


  • NGS資料分析·軟體解決方案
    • NGS工作流程
      • 資料分析工作流程
      • 使用中的NGS平台
      • NGS應用
      • 分析對象檢體
      • 處理樣品數
      • variant calling
    • NGS軟體解決方案的利用
      • NGS資料分析工作流程的課題
      • NGS資料分析軟體解決方案的類型
        • 商用軟體解決方案
        • 免費軟件
        • 公司內部開發的解決方案
        • 來自定序平台的variant calling套組
      • 軟體的PAIN POINT分析
      • 硬體設備PAIN POINT
      • 資料儲存
      • 任務式的NGS實驗室功能
      • 希望的分析軟體功能
      • 軟體供應商的認識度
    • 雲端基礎的解決方案
      • 雲端運算的利用
      • 現在使用中的雲端基礎的解決方案
      • NGS資料分析工作流程的課題
        • 開放原始碼 解決方案
        • 商用解決方案
    • 臨床性課題
      • NGS的檢驗類型
      • 資料庫利用
      • MAF (Minor allele frequency)的截止
      • 最後分析必要的資訊
      • NGS/EHR資料整合的主要課題
      • NGS的主要指南
      • 臨床環境的主要課題
    • 預算·支出額
      • NGS解決方案的目前取得法
      • 購買的相關產品
      • 訂閱的支付頻率
      • 目前NGS軟體解決方案的成本
      • NGS資料分析周圍的成本
        • 小型面板
        • 大型面板
        • 全外來體測序
        • 全基因測序
      • 愛好的支付方法
      • 現在·愛好的支付結構
      • NGS資料分析的年度實驗室預算
      • 工具間的預算分佈
      • 預算變更預測
      • 軟體購買的決定因素
Product Code: 17-012

Laboratories around the world are generating raw sequencing data at an unprecedented rate. Today it is possible to generate hundreds of millions of relatively short sequences in a single run in a short period of time with low per base cost. These technological developments have enabled widespread adoption of sequencing. At the same time, the challenges of aligning, analyzing, annotating and understanding the terabytes of data generated represent a major bottleneck in biological discovery and clinical adoption. Indeed, a plot of Moore's Law compared to sequencing throughput shows the cost of DNA sequencing has declined much faster than the cost of disk storage and processing power.

The 2017 Market for NGS Informatics: Probing the Commercial Landscape is designed to help companies understand these challenges from the perspective of NGS users. The scale of the data generated is not simply an obstacle for individual researchers trying to interpret it, but it presents significant informatics issues for reproducibility and even collaboration. NGS users are well aware that simply generating data does not lead to a proportionate increase in knowledge.

Sequencing an individual human genome involves generating short reads and mapping them to a known human reference genome. Read alignment maps hundreds of millions of short strings onto a reference string that can be three billion in length. Scientists and bioinformaticians are challenged to continually develop advanced data structures and highly parallel algorithms.

The direction of genomic research is changing. In the past, a single or just a handful of genomes were analyzed. Many translation research projects and the promise of personalized medicine now involve the analysis of hundreds of genomes in a single run. Storing and transmitting genomic data is another major challenge. According to sequencing expert Shawn Baker, Ph.D., the BAM file (a semi compressed alignment file) for a single 30X human whole-genome sample is about 90 GB. A relatively modest project of 100 samples would generate nine terabytes of BAM files. The problem is further exacerbated by the creation of metadata files to ensure data associated with a genome is not lost, and the integration with other types of information such as transcriptomic, methylomic and metabolomic data.

NGS data analysis, transmission and storage must also take into account the issues of data privacy and security which has inhibited the widespread adoption of cloud-based solutions and is particularly sensitive in clinical applications.

The scope and scale of sequencing projects will only continue to grow as speed and read lengths increase. But continued advancements in sequencing technology are offset by the ability of scientists to interpret biologically or clinically relevant information. The 2017 Market for NGS Informatics: Probing the Commercial Landscape provides insights into the needs of end-users so that solutions to the challenges can be overcome.


Back to Top