Category Archives: Genomics

Applications & Bottlenecks In Next Generation Sequencing, Day 2

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 #ngsmanchester — Paul [...]

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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, in, naturally enough, Manchester, UK. In order to break [...]

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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 [...]

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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 “normal” 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 [...]

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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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Moving Next-Generation Sequencing into the Clinic, part 2

first attempt at live tweets from #ngs2013 — Paul Denny (@pauldennyuk) March 12, 2013 In my last post, I summarised the first four talks from this symposium: 1st Oxford Workshop and Symposium, 4th Techgene Knowledge Network Meeting, “NGS2013 Next generation Sequencing: Bioinformatics and Data Analysis” You could also read the Tweets from the meeting [...]

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Moving Next-Generation Sequencing into the Clinic

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 #NGS #Clinical #Dx #diagnostic #personalisedmed Should be good — Paul Denny (@pauldennyuk) March 12, 2013 The speakers were clinicians, bioinformaticians and biomedical [...]

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