2014-05-012024-05-13https://scholars.lib.ntu.edu.tw/handle/123456789/647501摘要：本設施計畫的主要目標為「創建一個國家級的功能性基因體學研究核心，提供使用者所需的體學服務，藉以厚植台灣生醫實力，提升台灣生技產業競爭力」。我們將提供最先進且完整的功能性基因體學研究平台、一站式單一窗口服務、客製化服務和整合性生物資訊與生物統計服務。藉由此”整合性功能基因體學核心實驗室”及其提供的客製化服務，研究同仁將可以完成最尖端的基因體學研究並達成追求研究卓越的目的。在這個計畫中，除了目前核心實驗室已提供的服務外。今年，在新一代定序系統上，將正式提供第三代定序系統(Pacific Biosciences)、第四代定序系統 (Ion torrent and Ion Proton)服務與數位化 PCR(QX200 and RainDrop)，在基因晶片上，將提供可偵測包括基因間長鏈非編碼 RNA(LincRNA)在內的新版基因表現晶片與片段化核酸基因拷貝數晶片(OncoScan array)。我們將持續建立最新的新一代定序系統技術服務核心設施使用者。今年，核心將擁有 11套新一代定序系統(一套 SOLiD 4、一套 Illumina GAIIx、一套 Illumina HiSeq 2000、一套 Illumina MiSeq、四套 Ion Torrent、一套 Ion Proton、一套 Pacific Biosciences和一套 RainDance Thunder Storm)可以提供使用者台灣最完整與多樣性的新一代定序服務。Ion Torrent/Ion Proton有最快的運轉速度，每次上機時間小於 3小時。Pacific Biosciences可讀取世界上最長的序列，達 10,000鹼基，同時可以作單 DNA分子定序。RainDance是最新的 NGS技術，對於特定序列 DNA定序實驗，RainDance提供了目前為止最完整的 DNA擷取技術，此三項基因體學服務，截至目前，只有本核心提供服務。數字 PCR系統可用於偵測標的核酸分子，建立精確度和靈敏度的絕對指標。本核心所提供的兩套數位化 PCR系統分別可產生兩萬顆與千萬顆分割油滴，單一油滴為一個獨立 PCR反應，可分別用於計數與分析。本核心致力於數位化 PCR系統建置，已可用於多項分子檢測，包括單一反應進行單一與多重基因偵測(singleplex and multiplex)、單核苷酸多態性圖譜、片段化核酸基因拷貝數、低頻腫瘤基因檢測與表達圖譜等，可提供使用者更完整基因體學服務於基礎與轉譯醫學研究。為了提高服務能力和核心技術，我們將持續開發新的新一代定序與數位化 PCR檢測技術，以期提供各種樣品的最佳實驗結果。我們也將著重於開發新的數據分析演算法，以獲得最佳的分析結果。在過去的兩年間，本核心 100-101年度服務收入有新台幣 97,942,413元，102年度結算至 11月底有新台幣 30,295,955。核心與使用者發表了論文篇數 100-101年度有 55篇、102年度迄今有28篇。C5核心於 100-101年度也申請了 7個專利、102年度迄今有 1個專利、參與一個6,000,000廠商出資的產學計畫，同時培育了超過 100位碩博士生。我們相信本核心將可以滿足國科會、生技醫藥國家型科技計畫與生技產業研究人員的迫切服務需求，協助這些研究同仁達成他們最好的表現。<br> Abstract: The main purpose of this project is to establish a national-level functional genomics center which can support the state-of the-art services for researchers to strengthen the basis of medical sciences and the competitive ability of Taiwan biotech industry. We provide advanced and integrated functional genomic tools, one-stop service, customized service and integrated bioinformatics and biostatistics analysis. By accessing this “Integrated Core Facility for Functional Genomics” and customized services, researchers are able to perform cutting edge genomic research and achieve research excellence. In this year, except the NCFPB C5 Core Facility provided service items we provide the third generation sequencing, the forth generation sequencing and digital PCR services. Regarding to microarray services we provide new generation gene expression chip which not only detect gene expression and also detect LincRNA expression and OncoScan array which measure copy number variation in fragmented DNA. We continuously establish the up-to-date NGS assay systems to service users. C5 Core Facility possessed eleven sets of NGS platforms this year including one SOLiD 4, one GAIIx, one HiSeq2000, one MiSeq, four sets IonTorrent, one IonProton, one Pacific BioScience and one RainDance Thunder Storm to service users complete and divers NGS service. IonTorrent/IonProton possess high turnover rate and each assay could complete with 3 hours. Pacific BioScience can read single sequence up to 10,000 bases and can be applied to single DNA molecule sequencing. RainDanceis is the latest NGS technology. For specific regions or genes sequencing, RainDance offers the latest capture technology. Up to now, these three genomics services are only provided in C5 Core Facility. Digital PCR system provides an absolute measure of target nucleic acid molecules with unrivaled precision and sensitivity. C5 Core Facility provides two digital PCR systems which can generate twenty thousand and million nanoliter-sized droplets to partition the samples. Each droplet is an independent PCR reactor and could use to count positive and negative reaction. C5 Core Facility focused on digital PCR System establishment and can applied to several applications including singleplex and multiplex detection, SNP detection, copy numbers variation in fragmented DNAs, rare mutation detection which provide users more complete genomics service for basic and translational researches. To improve the service capability and core technology, we develop new and advanced technologies in NGS and digital PCR to provide best performance for various types of samples. We also develop new algorithm to obtain the best data analysis. In the past two years, the service income of 2011-2012 is NT 97,942,413 and the service income of this year is NT 30,295,955. Core members and users of this core are published 83 articles (2011-2012:55 articles; 2013:28 articles )and applied 8 internal patterns (2011-2012:7 patterns; 2013:1 patterns). One NT 6,000,000 academic-industry collaboration and formation of two research teams is initiated by C5. We also cultivate more than 100 Master/PhD students. We believe that this core will satisfy the urgent needs from NSC/NRPB researchers and assist the researchers to make their best achievement.基因體新一代定序數位化 PCR一站式單一窗口服務客製化服務genomicsnew generation sequencingdigital PCRone-stop servicecustomized service