This word cloud shows the words that people used in the ice-breaking session, that I mentioned in my last post, to describe what they hoped to gain from the conference. On Day 2, our Keynote speaker was: Dr Anneke Seller, Oxford Genetics: Clinical utility; actionable #NGS diagnosis for patients & families http://t.co/0mmrSx1Dd5 #ngsmanchester — Paul [...]
Category Archives: 基因組學
Applications & Bottlenecks In Next Generation Sequencing
After months of preparation and the occasional sleepless night, November 5th arrived. It wasn’t only Bonfire Night, but also the beginning of a two-day conference, focusing on NGS in clinical genetics laboratories. Organised by my colleagues and friends from biotexcel and myself, it was held in the Manchester Conference Centre, 在, naturally enough, Manchester, 聯合王國. In order to break [...]
Also posted in 科學傳播
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So, What Do Your Genes DO?
Genes are not passive. They are the target of molecular “dimmer switches”; typically (but not always) specific proteins, which dial up or turn down their activity. Most genes are translated into proteins, but discovering the true role of those proteins, in the life of a cell or a whole organism, is still one of the great challenges [...]
Also posted in 疾病模型, 目標發現
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Some of our genes are missing…but which ones?
One can think of genes in a number of ways: At the level of the DNA – simply as a linear sequence of nucleotides, in ONE fixed order, in the “正常” state, or Again as a DNA molecule, but remember that genes in organisms, rather than in pieces of DNA in a test-tube, are subject [...]
Also posted in 疾病模型
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Genetics Society Spring Meeting: Genomics for Health and Society
The aim of of the meeting was to begin to answer the question: “What will be the impact of large-scale sequencing of human populations in the 21st Century?” Held at The Royal Society in London on 19th April 2013, the meeting brought together some distinguished figures from clinical genetics, population genomics, DNA fingerprinting and the [...]
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移動下一代測序進入臨床, 部分 2
first attempt at live tweets from #ngs2013 http://t.co/SbWrGx8weI — 保羅·丹尼 (@ Pauldennyuk) 三月 12, 2013 In my last post, 我總結了本次研討會的前四個會談: 1ST牛津工作坊及研討會, 4日Techgene知識網絡會議, “NGS2013下一代測序: 生物信息學和數據分析” 你也可以閱讀的鳴叫從會議 [...]
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移動下一代測序進入臨床
On a glorious day (but with Arctic-like winds!) earlier this week, I attended a symposium on exploiting NGS in the diagnostic genetics clinic: Off to # Ngs2013 today at Wolfson College Oxford http://t.co/SbWrGx8weI #NGS #Clinical #Dx #diagnostic #personalisedmed Should be good — 保羅·丹尼 (@ Pauldennyuk) 三月 12, 2013 The speakers were clinicians, bioinformaticians and biomedical [...]
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