報告題目1: Delivering Precision Medicine to the NHS: Our Partnership with Genomics England

　　報告人: Dr.Peter Fromen

　　        Illumina, Illumina人群基因組項目部總監

　　報告題目2: High Powered, Economical Tools for Large Scale Genomics and Screening

　　報告人: Dr.John Picuri

　　        Illumina全球市場部產品經理

　　主持人: 曾長青 研究員

　　時間: 2016年6月13日（星期一）上午10:00－11:50

　　地點: 中國科學院北京基因組研究所11層1104會議室

　　報告摘要:

　　Delivering Precision Medicine to the NHS: Our Partnership with Genomics England

　　Peter Fromen

　　In 2012, UK Prime Minister David Cameron announced the creation of the 100,000 Genomes Project (100KGP) as a legacy to the Olympic games hosted in London that previous summer. The project was to offer new insights into disease and help transform the NHS. In 2013, the UK’s Secretary of State for Health announced the creation of separate independent entity out of the NHS and owned by the Department of Health to execute on this ambitious project. In August of 2014, Genomics England singed a partnership with Illumina to deliver the whole genome sequences for rare disease and cancer patients that would be recruited by the 100KGP. In my talk, I will provide brief background on Genomics England and its objectives and then focus on the partnership which it and Illumina have forged over the past two years. This will highlight the sequencing infrastructure that we have developed and can extend to similar projects as well as the recent expansion of our partnership to deliver a bioinformatics and clinical interpretation ecosystem to diagnose and interpret whole genomes at such scale.

　　High Powered, Economical Tools for Large Scale Genomics and Screening

　　John Picuri

　　To properly understand complex diseases and phenotypes an integrated view of genomics is needed which accounts for genomic variants and differential expression and regulation. Illumina is uniquely positioned to offer technologies which enable the study of these factors and which have the flexibility needed for novel discovery and the efficiency needed for large scale screening. Over the last 10 years genotyping array technologies have made significant advances going from studies of common variation in hundreds of samples to studies of rare variation in hundreds of thousands of samples. Over this same timeframe, genotyping arrays have gone from a technology mainly used by researchers to a technology with significant usage in applied markets such as agrigenomics and direct to consumer applications. In this presentation we will discuss current innovations in the Illumina array portfolio which havefocused on creating the most up to date content for large scale human screening application (Global Screening Array), combining our sequencing and array portfolios to enable unique applications (QC Array), and developing enhanced workflows and new beadchips to enable ultra-high throughput genotyping (Infinium XT.)

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