Kategori-arkiv: Genomik

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 #ngsmanchesterPaul [...]

Också publicerat iScience Communication | 1 Respons

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, i, naturally enough, Manchester, Storbritannien. In order to break [...]

Också publicerat iScience Communication | Lämna en kommentar

Så, 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 [...]

Också publicerat iSjukdomsmodeller, Target Discovery | Lämna en kommentar

Några av våra gener saknas…men vilka?

One can think of genes in a number of ways: På nivån av DNA – helt enkelt som en linjär sekvens av nukleotider, i en bestämd ordning, i “normal” tillstånd, or Again as a DNA molecule, men kom ihåg att gener i organismer, snarare än i delar av DNA i ett provrör, are subject [...]

Också publicerat iSjukdomsmodeller | 1 Respons

Genetics Society vårmöte: Genomics för hälsa och samhälle

The aim of of the meeting was to begin to answer the question: “Vad blir konsekvenserna av storskalig sekvensering av mänskliga populationer i 21st Century?” Hölls vid Royal Society i London den 19 april 2013, Mötet samlade några framstående siffror från klinisk genetik, befolkningen genomik, DNA fingerprinting and the [...]

Också publicerat iScience Communication | Lämna en kommentar

Flytta nästa generations sekvensering i kliniken, del 2

first attempt at live tweets from #ngs2013 http://t.co/SbWrGx8weI — Paul Denny (@ Pauldennyuk) Mars 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 [...]

Publicerat i Genomik | 1 Respons

Flytta nästa generations sekvensering i kliniken

På en härlig dag (men med Arctic-liknande vindar!) tidigare i veckan, Jag deltog i en konferens om utnyttja NGS i den diagnostiska genetik kliniken: Av till # Ngs2013 today at Wolfson College Oxford http://t.co/SbWrGx8weI #NGS #Clinical #Dx #diagnostic #personalisedmed Should be good — Paul Denny (@ Pauldennyuk) Mars 12, 2013 Talarna var kliniker, bioinformaticians and biomedical [...]

Publicerat i Genomik | 1 Respons
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