2017 Illumina北京测序技术交流会成功召开

　　仪器信息网讯 2017年6月20日下午1点30分，Illumina测序技术交流会在北京中奥马哥孛罗大酒店二层罗马厅正式召开，此次会议涉及国内外专家、学者关于NGS在单细胞、肿瘤免疫治疗、表观遗传学、液体活检及复杂疾病等领域最新的技术进展，展示了Illumina最新NGS平台Novaseq技术革新的魅力，吸引来自北京地区医疗体系、科研院所、测序平台等200多位专家、学者、基因测序从业者到场聆听报告交流经验。

观众签到后拿着小道具在会议墙报处拍照留念

现场掠影

胡芳芳 Illumina市场部经理

　　胡芳芳经理对会议日程和内容作了简单的介绍，她提到Illumina作为基因测序的领导者，一直致力于技术的发展和革新，今年推出了重磅产品NovaSeq，我们向着未来100美元人类全基因组测序计划又迈进了很大的一步。NGS推动了生命科学产业的发展，十几年前生命科学还是个很小的市场，主要聚焦在科研方面，这几年大家更多的一个讨论是继NIPT之后，NGS的下一个风口在哪里？Illumina希望能借由今天的测序技术交流会给大家带来一些新的想法和思维的碰撞，甚至找到NGS未来的一些机遇。

王利 中国医学科学院教授

　　王利教授给大家带来了题为Unlocking the Power of NGS in Cardiovascular Diseases and Regenerative Medicine 的报告，主要内容包括：

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.最后还提到了阜外医院关于人类心肌图谱计划的最新研究进展。

任岩 Illumina资深产品经理

　　任岩博士分享了题为“匠心质造，汇于重器：走进Illumina新一代测序系统”的报告。首先用手机的过去和现在的变化对比基因测序长度、容量、范围、费用的的变化，全基因组测序工艺的研究进展、在HiSeq X进行人类基因组测序的数量的历年变化、在人类全基因组测序技术的进步、还指出Illumina非常重视用户的反馈。紧接着介绍了测序技术的年复一年的不断革新和进步。从方方面面介绍了今年Illumina推出的NovaSeq测序仪，总的来说：1.通量更大。2.多种方法的建立使得结果更加精准。3.对人类全基因组的研究更加深入。他还描绘了下一代NGS的蓝图！

田埂 元码基因CEO

　　田埂博士给大家带来了液体活检的技术准备的演讲。首先他比较了组织活检和液体活检的差异性，并给出定性、定量、定位、定序的液体活检的完美流程。指出全血和血浆的液体活检的差异性，CTC、ctDNA、Exosome虽然三足鼎立，但各有优缺点。ctDNA独占鳌头有着深刻的原因。后来又介绍了五种使用UID的ctDNA测序技术和三种环化ctDNA测序技术，以及常规的高通量测序样本制备的流程、目标序列捕获，靶测序技术可以做到0.1%LOD，单链连接比双联连接有更高的连接效率和检出率，通过cfDNA全基因组测序推断基因表达。对比了不同种样本制备工艺的效率，指出早诊对检测技术参数的要求。最后还介绍了游离DNA甲基化的研究方法，并简短的阐述了元码基因的一些业务。

Jee-Hian Lim Illumina资深肿瘤市场发展经理

　　Jee-Hian经理给大家带来了“Next-Generation Sequencing:Precision Medicine’s Secret Weapon in Winning the Fight Against Cancer”的报告，主要内容包括：

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科学事业部总监

　　Jacques 博士带来了“Single Cells and Other New Frontiers For NGS: The Latest Advances in Sequencing Methods”的演讲，主要内容包括：

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.

　　然后会议进行了抽奖，大家热情很高，随后共进晚宴。最后几乎每个人都拿到了一张由Jacques 博士制作的名为“find your Seq?”的海报。