Arquivos de Categoria: Genômica

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 [...]

Também publicado em Science Communication | 1 Resposta

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, em, naturally enough, Manchester, Reino Unido. In order to break [...]

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Assim, 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 [...]

Também publicado em Modelos de doenças, Alvo descoberta | Deixar comentário

Alguns de nossos genes estão ausentes…mas quais?

One can think of genes in a number of ways: Ao nível do DNA – simplesmente como uma sequência linear de nucleótidos, em uma ordem fixa, no “normal” estado, or Again as a DNA molecule, mas lembre-se que os genes em organismos, em vez de fragmentos de DNA em um tubo de ensaio, are subject [...]

Também publicado em Modelos de doenças | 1 Resposta

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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Movendo sequenciamento de última geração para a Clínica, part 2

first attempt at live tweets from #ngs2013 http://t.co/SbWrGx8weI — Paul Denny (@ Pauldennyuk) Março 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 AnalysisYou could also read the Tweets from the meeting [...]

Publicado em Genômica | 1 Resposta

Movendo sequenciamento de última geração para a Clínica

Em um dia glorioso (mas com Arctic-como ventos!) no início desta semana, Eu participei de um simpósio sobre NGS exploradoras no diagnóstico de genética clínica: Desligado para # Ngs2013 today at Wolfson College Oxford http://t.co/SbWrGx8weI #NGS #Clinical #Dx #diagnostic #personalisedmed Should be good — Paul Denny (@ Pauldennyuk) Março 12, 2013 Os palestrantes foram os médicos, bioinformaticians and biomedical [...]

Publicado em Genômica | 1 Resposta
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