And that means passing a major test: successfully sequencing the 100,000 exomes in the PGP. ❋ Unknown (2008)
We expect to launch the Ion Proton I Chip in mid-2012, which will allow researchers to sequence exomes in a few hours and the Proton II Chip 6 months later that will sequence human genome also in a few hours.
This is stunning because a year ago this would have cost ten times as much or more. 23andMe isn't the first company to offer consumers exomes - that would be Knome, of Cambridge, Mass. - but still the low price is eye-popping.
PGM is for genes and panels and small genomes, Proton is for exomes and genomes.
They sequenced the entire exomes of 53 schizophrenia patients, along with the exomes of their parents, in families that have no wider history of the disease. ❋ John Timmer (2011)
What 23andMe is offering is to make people's exomes available to them, and the DNA sequencer will go over their DNA 80 times known as 80-fold coverage to make sure that the genetic code is accurate.
This year will see the launch of several very large studies taking a variety of approaches to dig into the lower end of the frequency spectrum: imputation using existing data-sets; new genome-wide association chips containing larger numbers of rare SNPs; and large-scale sequencing of candidate genes, whole exomes and even entire genomes. ❋ Daniel MacArthur [email protected] (2010)
The University of Washington researchers sequenced the exomes of 10 unrelated individuals with ❋ Unknown (2010)
Back in the lab, the BGI team isolated only the active genes, or exons, from each individual, then used next-generation sequencing technology to sequence these so-called exomes. ❋ Unknown (2010)
Beginning with the premise that Kabuki syndrome is caused by alterations in just a single gene, the researchers compared the exomes of the 10 patients to the human genome sequence to look for differences shared by the affected individuals. ❋ Unknown (2010)
Ultimately, the researchers were able to discover MLL2 mutations in nine of the 10 patients 'exomes. ❋ Unknown (2010)
"To find these, it will be important to sequence the exomes of additional, well-characterized cases of Kabuki syndrome in which we do not find we don't see MLL2 mutations." ❋ Unknown (2010)
We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. ❋ Alexander Hoischen (2010)
We sequenced 50 exomes of ethnic Tibetans, encompassing coding sequences of 92% of human genes, with an average coverage of 18x per individual. ❋ Unknown (2010)
Alongside public data, s/he will have access to a large novel dataset of exomes sequenced from a cohort of PD patients and will aim to identify novel PD candidate genes and biological processes. ❋ Unknown (2010)
Looking for novel variants in genes that were shared among subsets of the 10 patients 'exomes, they found novel, matching variants that were shared in three genes in nine of the patient's exomes, shared in six genes in at least eight exomes, and shared in 16 genes among seven exomes. ❋ Unknown (2010)
Scientists from the University of California, Berkeley sequenced the exomes -- the three percent of the genome that codes for proteins -- of 50 Tibetans and 40 Han Chinese, uncovering more than 30 genes with DNA mutations that have become more prevalent in Tibetans than Han ❋ Unknown (2010)
