US Researchers has been awarded with $825,000 to evaluate the use of NGS technology for forensic applications.
Pennsylvania State University will work in conjunction with the Battelle Memorial Institute, the lead institution on the grant, and 6 other laboratories. As the sole university partner, Penn State will be performing evaluations of forensic investigative tools that will expand the capabilities of forensic DNA laboratories.
The grant will test the feasibility of new instruments, laboratory materials and software tools in the field of DNA-based forensics. The study’s aim is to vet tools using next generation sequencing technology and implement them into working crime laboratories.
According to the grant abstract, DNA samples are provided by the National Institute of Standards and Technology. They will be sequenced using Illumina’s MiSeq platform or Life Technologies’ Ion PGM Sequencing System.
The laboratories hope to be able to get tools that use NGS into working crime laboratories to replace current less-informative forensic methods. The new technology will increase efficiency in forensic work and could also help generate investigative leads and identify individuals with only traces of genetic evidence.
Visit forensics.psu.edu/research for more information about the Department of Forensic Science at Pennsylvania State University.
Researchers looked at the genome of some of the oldest living people. While they did not find a significant association with extreme longevity, the researchers published their genome findings. At least the data will be available as a resource for future researchers looking at the “genetic basis” of longevity.
There are 74 supercentenarians (110 years or older) alive worldwide, with 22 living in the United States. The authors of this study performed whole genome sequencing on 17 of them to explore the genetic basis underlying extreme human longevity.
“We were looking for a really simple explanation in a single gene,” said Stuart K. Kim, a Stanford geneticist and molecular biologist. “And we know now that it’s a lot more complicated, and it will take a lot more experiments and a lot more data from the genes of more supercentenarians to find out just what might account for their ages.”
From the limited sample size the researchers were not able to find protein-altering variants associated with extreme longevity, according to a study in PLOS ONE by Hinco Gierman from Stanford University and colleagues published November 12, 2014 . But they did find one supercentarian had a genetic variant related to a heart condition that had very little effect on his health considering he reached such and elderly age. The researchers noted that it is recommended by the American College of Medical Genetics and Genomics to report this instance as an incidental finding.
The whole genome sequences of all 17 supercentenarians are now available as a public resource so that they can be used to assist the discovery of the genetic basis of extreme longevity in future studies.
Compare to Large genome sequencing studies in the USA (posted August 26, 2014 )
Last month we asked if you would be interested in sequencing your genome. If the costs would be lower, the majority said “YES”.
More than 20% answered that their genome has already been sequenced. Personally, I would be very interested to know what they did with the data output.
If you are one of the guys who voted “I already have” please submit a comment why you decided to have your genome sequenced.
We asked you in which technology you see the future of miRNA analysis.
Find here the voting of the 102 participants:
The GEN report by Enal Razvi, Ph.D. provides an overview of the current NGS field in terms of application areas and utilization patterns.
Some findings of the report:
- The exponential growth of NGS-focused publications illustrates the expansion of NGS and its penetration info research.
- 49% of next generation sequencing methods are used for basic research.
- 29% of researchers are using NGS for comparative genome sequencing
- 38% of research efforts are studying somatic mutation
33% are studying mRNA expression via RNA-Seq
Single cell genomics provides new insight into the biology of Malaria parasites (Plasmodium vivax and Plasmodium falciparum), including their virulence and levels of drug resistance to improve treatment and control of the disease.
The new method for isolating and genome sequencing an individual malaria parasite cell will allow scientists to improve their ability to identify the multiple types of malaria parasites infecting patients and lead to ways to design drugs and vaccines to tackle this major global killer.
Malaria parasite infections are complex and often contain multiple different parasite genotypes and even different parasite species. So when researchers take a blood sample from a malaria infected patient and look at the parasite DNA within they end up with a complex mixture that is difficult to interpret.
“Current sequencing techniques really limit our understanding of malaria parasite biology” says Ian Cheeseman, Ph.D., who led this project. “It’s like trying to understand human genetics by making DNA from everyone in a village at once. The data is all jumbled up – what we really want is information from individuals.”
To achieve a better understanding of malaria parasites – single celled organisms that infect red blood cells – the project team developed a novel method for isolating an individual parasite cell and sequencing its genome. Single cell genomics allows the separation and isolation of cells to extract and sequence individual parasite DNA and determine any differences between the parasites within an infection..
“One of the real challenges was learning how to cope with the tiny amounts of DNA involved. In a single cell we have a thousand million millionth of a gram of DNA. It took a lot of effort before we developed a method where we simply didn’t lose this,” said Nair, the first author on the work.
Their method is set to change how researchers think about infections. “One of the major surprises we found when we started looking at individual parasites instead of whole infections was the level of variation in drug resistance genes. The patterns we saw suggested that different parasites within a single malaria infection would react very differently to drug treatment” said Nair.
Unfortunately the new method is currently too expensive and demanding for routine use in the clinic, as the technology matures the applications for understanding malaria biology are vast.
The findings are revealed in a study by researchers at the Texas Biomedical Research Institute and published recently in the journal Genome Research.
The work is funded by the Texas Biomedical Forum, National Institutes of Health, a Cowles Postdoctoral Training Fellowship and the Wellcome Trust and was led by Texas Biomed’s Cheeseman with collaborators at the University of Texas Health Science Center San Antonio, Case Western Reserve University, the Cleveland Clinic Lerner Research Institute, the Shoklo Malaria Research Unit, Thailand, and the Malawi-Liverpool-Wellcome Trust Clinical Research Programme, Malawi.
Excellent paper just out that dissects the phylogeny of North American oak trees using RAD-Seq.
A phylogenetic study of the American Oak clade based on RAD-seq data has recently be published by PLoS ONE. The study is one of the first to demonstrate the utility of RAD-Seq data for inferring phylogeny in a 23-33 million year-old clade.
Associated with the paper is a new R package for downstream analysis of phylogenetic RADseq data, RADami
Some months ago we asked you for how long you have been involved with next generation sequencing.
Almost 200 people sent their feedback and gave us a very interesting insight in their experience with NGS. To take this into account, we want to further align our posts with the focus topics of our readers.
Feel free to send me your comments and suggestions to make ngs-expert.com even more valuable for you.