儀器概述 / Instrument Overview

• 核心技術：採用 Oxford Nanopore 專利奈米孔定序與電信號直接偵測技術，無需進行 PCR 擴增，可同步偵測未修飾與修飾之鹼基，如 5mC、6mA 等甲基化訊號。Core Technology: Utilizes Oxford Nanopore’s patented nanopore sequencing and direct electrical signal detection technologies. PCR amplification is not required, enabling simultaneous detection of both unmodified and modified bases, such as methylation signals including 5mC and 6mA

• 原始分子定序： 主機與 Flow Cell 支援對 DNA 及 RNA 原始分子進行單分子、即時（Real-time）定序實驗，確保序列完整性。Native Molecule Sequencing: The instrument and Flow Cell support single-molecule, real-time sequencing of native DNA and RNA molecules, ensuring sequence integrity.

• 超長片段定序： 具備優異的長片段處理能力，讀取長度無理論上限，實務上可定序 Kb 至 Mb 級別之超長片段。Ultra-long Read Sequencing: Provides excellent long-fragment sequencing capability, with no theoretical limit on read length. In practice, it can sequence ultra-long fragments ranging from kilobases (Kb) to megabases (Mb).
• 高通量產出： 單個 PromethION Flow Cell 晶片之數據產出量平均可達 80–100 Gb，視樣本品質與實驗類型而定，滿足高深度覆蓋需求。High-throughput Output: A single PromethION Flow Cell can generate an average data output of 80–100 Gb, depending on sample quality and experimental type, meeting the requirements for high-depth coverage.
• 獨立運作通道： 配置 2 個可完全獨立運行的定序通道，支援不同樣本、不同時間點啟動實驗，提升實驗排程彈性。Independently Operated Channels: Equipped with two sequencing channels that can operate completely independently, allowing experiments with different samples or different start times, thereby improving flexibility in experimental scheduling.

功能與應用 / Functions & Applications

• 全基因組定序（Whole Genome Sequencing, WGS）：

  • 1. 適用於人類、動植物及微生物之高品質基因組組裝（De novo Assembly）。Suitable for high-quality de novo genome assembly of humans, animals, plants, and microorganisms.
  • 2. 可精準偵測大型結構變異（Structural Variants, SVs）、重複序列（Repeats）及單倍型（Haplotype）分析。Enables accurate detection of large structural variants (SVs), repetitive sequences, and haplotype analysis.

• 表觀遺傳學研究（Epigenetics）：在定序過程中直接辨識胞嘧啶甲基化（5mC）等修飾，無需經過重亞硫酸鹽處理（Bisulfite conversion），保留樣本原始資訊。Epigenetics: Allows direct identification of cytosine methylation, such as 5mC, during sequencing without the need for bisulfite conversion, thereby preserving the original sample information.

• 全轉錄組定序（Transcriptomics / RNA-seq）：Transcriptome and RNA sequencing: Supports direct RNA sequencing without reverse transcription, preserving native RNA structures and modifications.

  • 1. Direct RNA-seq： 直接對原生 RNA 定序，免除 cDNA 合成造成的偏差，並可偵測 RNA 修飾。Direct RNA-seq: Direct sequencing of native RNA, eliminating bias introduced by cDNA synthesis and enabling the detection of RNA modifications.
  • 2. cDNA 定序： 支援全長轉錄本（Full-length transcript）定序，精準分析異構體（Isoform）、剪接位點（Splicing sites）及融合基因。cDNA Sequencing: Supports full-length transcript sequencing, allowing accurate analysis of isoforms, splicing sites, and fusion genes.

• 目標區域定向定序（Targeted Sequencing）：針對特定基因座或長片段 PCR 產物進行深度定序，適用於精準醫療與藥物基因體學研究。Targeted Sequencing: Performs deep sequencing of specific loci or long-fragment PCR products, making it suitable for precision medicine and pharmacogenomics research.

• 環境微生物組學（Metagenomics）： 對環境樣本進行物種鑑定與功能分析，長讀長優勢能顯著提升複雜群落的組裝連續性。Environmental Metagenomics: Enables species identification and functional analysis of environmental samples. The advantage of long-read sequencing significantly improves assembly continuity in complex microbial communities.

分析與數據 / Analysis & Data

• 高通量與可擴充性：PromethION 2 Solo 具備高資料產出能力，可依研究需求彈性調整測序策略。
  High throughput and scalability: PromethION 2 Solo delivers high data output with flexible sequencing strategies tailored to different research needs.

• 即時數據監控：定序過程中即可同步產出與分析數據，研究人員能即時掌握品質、讀長與覆蓋度。
  Real-time data monitoring: Sequencing data are generated and analyzed in real time, allowing immediate assessment of quality, read length, and coverage.

• 長讀長優勢：有效提升 de novo genome assembly 的完整性，並解析複雜結構變異。
  Long-read advantage: Enhances de novo genome assembly quality and enables comprehensive analysis of complex genomic structures.

• 完整分析生態系：可搭配 ONT 與開源分析工具（如 Guppy、Minimap2、Flye、Medaka、NanoPlot），進行序列比對、組裝、錯誤校正與品質評估。。
  Integrated bioinformatics ecosystem: Compatible with ONT and open-source tools (e.g., Guppy, Minimap2, Flye, Medaka, NanoPlot) for alignment, assembly, polishing, and quality control..

儀器放置地點 / Location

• 國際學術研究大樓 八樓 IR802室 - 蛋白質體核心研究室
  International Research Building, 8th Floor, Room IR802 – Proteomics Core Laboratory