Topic: Research

Recent advances in research: Next generation sequencing of mitochondrial mummy DNA

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.

ESHG 2017 Was One To Remember

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.

Best approaches to speed up BAM file processing in Nexus Copy Number 9.0

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?

Check out our updated Nexus DB

With Nexus DB, you now have the ability to view and query the fully curated TCGA Premier datasets within areas of interest.

Nexus Copy Number 9.0 is here

Nexus Copy Number 9.0 is coming this month! It contains a new method that is called BAM (multiscale reference). It derives copy number results from whole genome sequencing (WGS), whole exome sequencing (WES), and targeted panel sequencing data.

Long non-coding RNAs: Filling in the human genome

The major focus of the human genome is on the coding exonic regions, a recent publication has shed light on the massive number of long non-coding RNAs (lncRNAs).

Can we predict baldness?

Largest study of the genetic architecture of male pattern baldness reveals over 200 novel findings as well as a polygenic predictor.

Patent application for methods for prognosticating brain tumors uses Nexus Copy Number and TCGA Premier

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.

Do you want to find causative mutation or prioritize variants for detailed analysis?

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.

Advances in Comparative Genomics and Genome Mapping

More and more plant and animal genomes are being sequenced and mapped - ANY organism with a mapped genome can be analyzed for copy number analysis using Nexus Copy Number.