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 http://t.co/0mmrSx1Dd5 #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, Spojené kráľovstvo. In order to break [...]

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So, What Do Your Genes DO?

Genes are not passive.  They are the target of moleculardimmer 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 missingbut which ones?

One can think of genes in a number of ways: At the level of the DNAsimply as a linear sequence of nucleotides, in ONE fixed order, in the “normálne” 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 Disease Models | 1 Response

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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Sťahovanie budúcej generácie sekvenovania na Kliniku, časť 2

first attempt at live tweets from #ngs2013 http://t.co/SbWrGx8weI — Paul Denny (@ Pauldennyuk) Marec 12, 2013 In my last post, Som zhrnul prvé štyri rozhovory z tohto sympózia: 1ulice Oxford dielne a sympózia, 4th Techgene Knowledge Network Meeting, “NGS2013 generácie sekvenovania: Bioinformatiky a analýza dát” Môžete si tiež prečítať tweety zo zasadnutia [...]

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Sťahovanie budúcej generácie sekvenovania na Kliniku

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 — Paul Denny (@ Pauldennyuk) Marec 12, 2013 The speakers were clinicians, bioinformaticians and biomedical [...]

Posted in Genomics | 1 Response
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