Posts Tagged ‘#genomics’
Father’s Age Linked to Autism and Schizophrenia – NYTimes.com
August 25, 2012An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
August 20, 2012Paper with the NS/S ratio: (See Fig 2C).
http://www.sciencemag.org/content/337/6090/100.abstract
Presaging what we’ll see in exomes to come….
Mutational processes molding the genomes of 21 breast cancers
August 20, 2012Here is the link to the 21 Breast Cancer genomes:
http://www.ncbi.nlm.nih.gov/pubmed/22608084
Found hotspots of mutation….
Genome sequence data have been deposited at the European Genome-Phenome Archive (http://www.ebi.ac.uk/ega/ at the EBI) with accession number EGAD00001000138. SNP6 array data have been deposited with ArrayExpress Archive (EBI, accession number E-MTAB-1087).
Ensembl SO terms
August 9, 2012http://www.ensembl.info/blog/2012/08/06/variation-consequences/
UCSC, ICGC and dbSNP will follow…
mutation rates in cancer cells
August 5, 2012Seem to have cancer SNV calls all over the genome.
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11273.html
ionTorrent OxfordNanopore CompleteGenomics
July 21, 2012Courtesy 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/
Landscape of Somatic Retrotransposition in Human Cancers – Science
July 5, 2012http://www.sciencemag.org/content/early/2012/06/27/science.1222077.abstract
Park lab led analysis of TCGA data
Another Genetic Quirk of the Solomon Islands: Blond Hair
May 5, 2012Science 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).
linkstream2 microblog 