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 [...]
Categoría: Genómica
Applications & Bottlenecks In Next Generation Sequencing, Day 2
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, en, naturally enough, Manchester, Reino Unido. In order to break [...]
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 [...]
Algunos de nuestros genes están desaparecidos…pero que los?
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 [...]
Genética Reunión de Primavera Sociedad: Genómica para la Salud y la Sociedad
The aim of of the meeting was to begin to answer the question: “¿Cuál será el impacto de secuenciación a gran escala de las poblaciones humanas en el siglo 21?” Celebrada en la Royal Society de Londres el 19 de abril 2013, la reunión congregó a algunas figuras ilustres de la genética clínica, genómica poblacional, DNA fingerprinting and the [...]
Mover secuenciación de próxima generación en la Clínica, parte 2
first attempt at live tweets from #ngs2013 http://t.co/SbWrGx8weI — Paul Denny (@ Pauldennyuk) Marzo 12, 2013 In my last post, Resumí las primeras cuatro charlas de este simposio: 1Oxford st Taller y Simposio, 4ª Reunión de la Red del Conocimiento Techgene, “NGS2013 secuenciación de próxima generación: Bioinformática y Análisis de Datos” También puede leer los tweets de la reunión [...]
Mover secuenciación de próxima generación en la Clínica
En un día glorioso (pero con el Ártico, como los vientos!) esta semana, Yo asistí a un simposio sobre NGS explotan en el diagnóstico clínica de genética: Apagado para # Ngs2013 today at Wolfson College Oxford http://t.co/SbWrGx8weI #NGS #Clinical #Dx #diagnostic #personalisedmed Should be good — Paul Denny (@ Pauldennyuk) Marzo 12, 2013 Los ponentes fueron los médicos, bioinformaticians and biomedical [...]