儀器信息網訊 2017年6月20日下午1點30分，Illumina測序技術交流會在北京中奧馬哥孛羅大酒店二層羅馬廳正式召開，此次會議涉及國內外專家、學者關于NGS在單細胞、腫瘤免疫治療、表觀遺傳學、液體活檢及復雜疾病等領域最新的技術進展，展示了Illumina最新NGS平臺Novaseq技術革新的魅力，吸引來自北京地區(qū)醫(yī)療體系、科研院所、測序平臺等200多位專家、學者、基因測序從業(yè)者到場聆聽報告交流經驗。

觀眾簽到后拿著小道具在會議墻報處拍照留念

現場掠影

胡芳芳 Illumina市場部經理

　　胡芳芳經理對會議日程和內容作了簡單的介紹，她提到Illumina作為基因測序的領導者，一直致力于技術的發(fā)展和革新，今年推出了重磅產品NovaSeq，我們向著未來100美元人類全基因組測序計劃又邁進了很大的一步。NGS推動了生命科學產業(yè)的發(fā)展，十幾年前生命科學還是個很小的市場，主要聚焦在科研方面，這幾年大家更多的一個討論是繼NIPT之后，NGS的下一個風口在哪里？Illumina希望能借由今天的測序技術交流會給大家?guī)硪恍┬碌南敕ê退季S的碰撞，甚至找到NGS未來的一些機遇。

王利 中國醫(yī)學科學院教授

　　王利教授給大家?guī)砹祟}為Unlocking the Power of NGS in Cardiovascular Diseases and Regenerative Medicine 的報告，主要內容包括：

1.Ischemic heart disease underlies the leading casuse for human morbidity and mortality.

2.Embryonic stem cells(ESCs) hold great promise for basic research and translational medicine.

3.Proposed core pluripotency circuitry governing ESC identity.

4.RNAi screen in mouse ESCs identified novel self-renewal regulators.

5.The INO80 complex is an ATP-dependent chromatin remodeler.

6.INO80 is required for ESC self-renewal.

7.INO80 is part of the core regulatory circuitry of self-renewal and pluripotency.

8.INO80 occupies and regulates well-characterized ESC genes.

9.INO80 promotes ESC gene transcription.

10.INO80 promotes nucleosome depletion near pluripotency gene promoter regions.

11.INO80 is required for open chromatin structure.

12.INO80 preferentially occupies ESC genes.

13.Methods for the differentiation of human pluripotent stem cells.

14.Current status of PSC-based stem cell therapy in heart diseases.

15.Effective induction of cardiomyocyte from embryonic stem cells.

16.High resolution single cell profiling during cardiac differentiation.

17.Cellular heterogeneity is the key aspect during differentiation.

18.Chromatin remodelers play critical roles in development.

19.The expression levels of chromatin remodelers in each single cell during differentiation.

20.INO80 complex highly correlates with cardiac differentiation.

21.INO80 complex is potentially involved in the cellular heterogeneity during cardiac differentiation.

22.INO80 correlates with cardiac development.

23.INO80 depletion repressed cardiac lineage commitment.

24.INO80 is required for cardiac differentiation at mid-late stages.

25.Dynamic occupancy of INO80 at different stage of cardiac differentiation.

26.INO80 facilitates Med1 recruitment to pluripotent genes in ESCs.

27.Cell type-specific compositions may underlie differential functional outcomes of INO80 complex.

28.最后還提到了阜外醫(yī)院關于人類心肌圖譜計劃的最新研究進展。

任巖 Illumina資深產品經理

　　任巖博士分享了題為“匠心質造，匯于重器：走進Illumina新一代測序系統”的報告。首先用手機的過去和現在的變化對比基因測序長度、容量、范圍、費用的的變化，全基因組測序工藝的研究進展、在HiSeq X進行人類基因組測序的數量的歷年變化、在人類全基因組測序技術的進步、還指出Illumina非常重視用戶的反饋。緊接著介紹了測序技術的年復一年的不斷革新和進步。從方方面面介紹了今年Illumina推出的NovaSeq測序儀，總的來說：1.通量更大。2.多種方法的建立使得結果更加精準。3.對人類全基因組的研究更加深入。他還描繪了下一代NGS的藍圖！

田埂 元碼基因CEO

　　田埂博士給大家?guī)砹艘后w活檢的技術準備的演講。首先他比較了組織活檢和液體活檢的差異性，并給出定性、定量、定位、定序的液體活檢的完美流程。指出全血和血漿的液體活檢的差異性，CTC、ctDNA、Exosome雖然三足鼎立，但各有優(yōu)缺點。ctDNA獨占鰲頭有著深刻的原因。后來又介紹了五種使用UID的ctDNA測序技術和三種環(huán)化ctDNA測序技術，以及常規(guī)的高通量測序樣本制備的流程、目標序列捕獲，靶測序技術可以做到0.1%LOD，單鏈連接比雙聯連接有更高的連接效率和檢出率，通過cfDNA全基因組測序推斷基因表達。對比了不同種樣本制備工藝的效率，指出早診對檢測技術參數的要求。最后還介紹了游離DNA甲基化的研究方法，并簡短的闡述了元碼基因的一些業(yè)務。

Jee-Hian Lim Illumina資深腫瘤市場發(fā)展經理

　　Jee-Hian經理給大家?guī)砹恕癗ext-Generation Sequencing:Precision Medicine’s Secret Weapon in Winning the Fight Against Cancer”的報告，主要內容包括：

1.Evolution of Cancer Care.

2.Patient Survival Increased Over Time.

3.The Toll of Cancer.

4.Economic Burden for the Patient.

5.Growing Interest in Immuotherapy.

6.Clinical Research Data Often Reveal Variability in Subject Responses.

7.PD-L1 Immunohistochemistry(IHC).

8.PD-L1 IHC Status and Clinical Benefit.

9.Serious Side Effects Associated with Immunotherapy.

10. Combination Therapies in Greater Use.

11.How Do We manage Cancer Care Better?

12.Reasons for Improved Multianaly Testing.

13.The Potential of NGS in Immuno-Oncology.

14.Exome and RNA Sequencing to understand response to checkpoint blockade.

15.Genomic Correlates to Anti PD-L1(Atezolizumab).

16.RNA-Seq Subtype Using Truseq RNA Access.

17.Mutational Load.

18.TruSight Tumor 170 and Mutational Burden.

19.Genomic Correlates to Anti PD-L1 (Atezolizumab) Response in Urothelial Carcinoma.

20. Genomic Techniques Toward Precision Medicine.

21.Proposal For Personalized Checkpoint Immunotherapy.

22.Resistance to Checkpoint Blockade.

23.Utilizing Restrospective Data to Assess Mechanisms of Tumor Resistance.

24.Adoptive Cell Transfer.

25.Immunotheraoy (Adoptive T Cell) Research.

26.Muti-Omics Approach.

27.Vaccination Promotes a Diverse Neoantigen-Specific T-cell Repertoire.

28.Personlized Cancer Vaccines.

29.Key Questions in Immuno-Oncology Research.

Jacques Retief Illumina科學事業(yè)部總監(jiān)

　　Jacques 博士帶來了“Single Cells and Other New Frontiers For NGS: The Latest Advances in Sequencing Methods”的演講，主要內容包括：

1.Sequencing Methods Increase.

2.Trends include Discover new biology and Refining Current techniques.

3.New Insights through Technology: Epitranscriptomics、MARIO、ATAC-see.

4.Single Cell Sequencing: Spatial Information and Genotype-Phenotype Correlation.

5.Impact on Canner Research.

　　然后會議進行了抽獎，大家熱情很高，隨后共進晚宴。最后幾乎每個人都拿到了一張由Jacques 博士制作的名為“find your Seq?”的海報。