Ensembl SO terms
Thursday, August 9th, 2012http://www.ensembl.info/blog/2012/08/06/variation-consequences/
UCSC, ICGC and dbSNP will follow…
http://www.ensembl.info/blog/2012/08/06/variation-consequences/
UCSC, ICGC and dbSNP will follow…
Seem to have cancer SNV calls all over the genome.
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11273.html
Courtesy of NB & JC :
QT:
“Exploiting the fact that a hydrogen ion is released whenever a nucleotide attaches to a strand of DNA, sensors in Ion Torrent’s microchip have been designed to detect this chemical signature. “
“ they’ve (Oxford Nanopores) embedded a protein pore into a synthetic polymer membrane. The strand of DNA being sequenced is then passed through the pore and as each nucleotide goes through, it registers as a different electrical signal detected by Oxford’s machine.”
“Complete Genomics expects to churn out the complete sequences of 100,000 to 1 million genomes in the near future as they ramp up operations!”
http://singularityhub.com/2012/07/20/battle-of-the-next-generation-dna-sequencers-heating-up/
http://www.sciencemag.org/content/early/2012/06/27/science.1222077.abstract
Park lab led analysis of TCGA data
Science paper
http://www.sciencemag.org/content/336/6081/554
From SB: It is always cool to associate a variant to a clear phenotype ( even it it isn’t the causal variant).