A recent article in Nature Communications describes the use of mitochondrial DNA sequencing to study population genomics in ancient civilizations. Mitochondrial DNA from a set of 151 ancient Egyptian mummies from a 1300 year span were sequenced.
We are excited to have been part of this historic event: this year is the 50th anniversary of the ESHG conference and the inaugural event was also held in Copenhagen, in 1967! An excellent lineup of speakers began with the opening plenary lectures where Drs. Read, Brunner, and Visel addressed respectively, the history, present day, and the future of genetics leading to lots of lively conversations.
Users are excited about the methods in Nexus Copy Number 9.0 for getting copy number from NGS BAM files. However, due to the size of the BAM files, sometimes users may find the analysis process to be slow. So, what can be done to improve the speed?
Cedar Sinai Medical Center in Los Angeles, CA has filed a patent for a method for prognosticating patient survival based on the ZEB1 gene. The application also describes methods for selecting therapies based on analysis of ZEB1 and several other genes.
The Exomiser tool from the Sanger Institute proposes a solution by comparing phenotypes from multiple organisms with known mutations in this paper: “Improved exome prioritization of disease genes through cross-species phenotype comparison” by Robinson et al, 2014 (Genome Res. 2014 Feb; 24(2): 340–348.