儀器信息網(wǎng)訊 2017年6月20日下午1點(diǎn)30分，Illumina測(cè)序技術(shù)交流會(huì)在北京中奧馬哥孛羅大酒店二層羅馬廳正式召開，此次會(huì)議涉及國(guó)內(nèi)外專家、學(xué)者關(guān)于NGS在單細(xì)胞、腫瘤免疫治療、表觀遺傳學(xué)、液體活檢及復(fù)雜疾病等領(lǐng)域最新的技術(shù)進(jìn)展，展示了Illumina最新NGS平臺(tái)Novaseq技術(shù)革新的魅力，吸引來(lái)自北京地區(qū)醫(yī)療體系、科研院所、測(cè)序平臺(tái)等200多位專家、學(xué)者、基因測(cè)序從業(yè)者到場(chǎng)聆聽(tīng)報(bào)告交流經(jīng)驗(yàn)。

觀眾簽到后拿著小道具在會(huì)議墻報(bào)處拍照留念

現(xiàn)場(chǎng)掠影

胡芳芳 Illumina市場(chǎng)部經(jīng)理

　　胡芳芳經(jīng)理對(duì)會(huì)議日程和內(nèi)容作了簡(jiǎn)單的介紹，她提到Illumina作為基因測(cè)序的領(lǐng)導(dǎo)者，一直致力于技術(shù)的發(fā)展和革新，今年推出了重磅產(chǎn)品NovaSeq，我們向著未來(lái)100美元人類全基因組測(cè)序計(jì)劃又邁進(jìn)了很大的一步。NGS推動(dòng)了生命科學(xué)產(chǎn)業(yè)的發(fā)展，十幾年前生命科學(xué)還是個(gè)很小的市場(chǎng)，主要聚焦在科研方面，這幾年大家更多的一個(gè)討論是繼NIPT之后，NGS的下一個(gè)風(fēng)口在哪里？Illumina希望能借由今天的測(cè)序技術(shù)交流會(huì)給大家?guī)?lái)一些新的想法和思維的碰撞，甚至找到NGS未來(lái)的一些機(jī)遇。

王利 中國(guó)醫(yī)學(xué)科學(xué)院教授

　　王利教授給大家?guī)?lái)了題為Unlocking the Power of NGS in Cardiovascular Diseases and Regenerative Medicine 的報(bào)告，主要內(nèi)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(guān)于人類心肌圖譜計(jì)劃的最新研究進(jìn)展。

任巖 Illumina資深產(chǎn)品經(jīng)理

　　任巖博士分享了題為“匠心質(zhì)造，匯于重器：走進(jìn)Illumina新一代測(cè)序系統(tǒng)”的報(bào)告。首先用手機(jī)的過(guò)去和現(xiàn)在的變化對(duì)比基因測(cè)序長(zhǎng)度、容量、范圍、費(fèi)用的的變化，全基因組測(cè)序工藝的研究進(jìn)展、在HiSeq X進(jìn)行人類基因組測(cè)序的數(shù)量的歷年變化、在人類全基因組測(cè)序技術(shù)的進(jìn)步、還指出Illumina非常重視用戶的反饋。緊接著介紹了測(cè)序技術(shù)的年復(fù)一年的不斷革新和進(jìn)步。從方方面面介紹了今年Illumina推出的NovaSeq測(cè)序儀，總的來(lái)說(shuō)：1.通量更大。2.多種方法的建立使得結(jié)果更加精準(zhǔn)。3.對(duì)人類全基因組的研究更加深入。他還描繪了下一代NGS的藍(lán)圖！

田埂 元碼基因CEO

　　田埂博士給大家?guī)?lái)了液體活檢的技術(shù)準(zhǔn)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(diǎn)。ctDNA獨(dú)占鰲頭有著深刻的原因。后來(lái)又介紹了五種使用UID的ctDNA測(cè)序技術(shù)和三種環(huán)化ctDNA測(cè)序技術(shù)，以及常規(guī)的高通量測(cè)序樣本制備的流程、目標(biāo)序列捕獲，靶測(cè)序技術(shù)可以做到0.1%LOD，單鏈連接比雙聯(lián)連接有更高的連接效率和檢出率，通過(guò)cfDNA全基因組測(cè)序推斷基因表達(dá)。對(duì)比了不同種樣本制備工藝的效率，指出早診對(duì)檢測(cè)技術(shù)參數(shù)的要求。最后還介紹了游離DNA甲基化的研究方法，并簡(jiǎn)短的闡述了元碼基因的一些業(yè)務(wù)。

Jee-Hian Lim Illumina資深腫瘤市場(chǎng)發(fā)展經(jīng)理

　　Jee-Hian經(jīng)理給大家?guī)?lái)了“Next-Generation Sequencing:Precision Medicine’s Secret Weapon in Winning the Fight Against Cancer”的報(bào)告，主要內(nèi)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(xué)事業(yè)部總監(jiān)

　　Jacques 博士帶來(lái)了“Single Cells and Other New Frontiers For NGS: The Latest Advances in Sequencing Methods”的演講，主要內(nèi)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(huì)議進(jìn)行了抽獎(jiǎng)，大家熱情很高，隨后共進(jìn)晚宴。最后幾乎每個(gè)人都拿到了一張由Jacques 博士制作的名為“find your Seq?”的海報(bào)。