Plan Your Poster Perusal | ASHG 2015

Catch your flight? Check. Check into your hotel? Check. Pick up your ASHG 2015 Badge? Check.

Now what’s next? Planning what to do once the meeting starts, of course!

When trying to decide what to do at this meeting there is no shortage of options, but there is an overwhelming amount to see. To help with this, the organizers of ASHG 2015 have put together an itinerary builder which includes everything that is happening, but that is still a LOT of information to sort through!

So if you don’t have time to get to everything or if you’re like most people reading this, and didn’t make it to ASHG, we’ve got you covered! Check out all the posters from Thermo Fisher Scientific and click on the titles to head straight to SlideShare to download your own copy.

Successful detection of 40 COSMIC hotspot mutations at allelic frequency below 0.5%

Poster #2717
Research has shown that circulating cell free DNA (ctDNA) is informative of tumor load and tumor evolution in both solid and hematological cancer. Detecting mutations in these ctDNA holds the promise for an accurate and non-invasive approach to assess minimum residual disease as well as treatment response in the future. However, as ctDNA makes up only a small fraction of cell free DNA recovered from the plasma, traditional methods of targeted sequencing often face a poor signal-to-noise ratio that can not be overcome with deep coverage. 

 

Rare Mutation Analysis Using Digital PCR on QuantStudio 3D to Validate Ion AmpliSeq Next Generation Sequencing for Cancer Research

Poster #2657
Next generation sequencing (NGS) is becoming an increasingly important analysis tool in cancer research. In this study, we set out to confirm its sensitivity and accuracy detecting low frequency mutations using rare mutation analysis by digital PCR as an independent technology protocol…

 

Improved Algorithm for Amplicon Sequencing Assay Designs

Poster #1621
Ion AmpliSeq™ sequencing is one of the most promising applications of the Ion Torrent NGS platform. It involves multiplex PCR for target enrichment. Thermo Fisher offers online Ion AmpliSeq Designer to customers to assist assay designs. While more and more people are adopting Ion AmpliSeq technologies, challenges for assay designs started to emerge. Here we present bioinformatics approaches to improve the following areas of assay design…

 

Advances in Breast Cancer Biomarker Discovery Methods

Poster # 2573
Forecasting clinical behavior and therapeutic response of human cancer currently utilizes a limited number of tumor markers in combination with characteristics of the patient and their disease. Although few tumor markers and molecular targets exist for evaluation, the wealth of information derived from recent sequencing advancements provides greater opportunities…

 

Development of a high throughput workflow for CFTR mutation screening

Poster #2035
Cystic fibrosis (CF) is an autosomal recessive genetic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is the most common genetic disease of Caucasians, affecting 1 in 3000 newborns and having a carrier frequency of 1 in 25. CF impacts mucin production in lungs and other organs, and is a progressive incurable disease…

 

Confirming Variants Discovered by Next Generation Sequencing (NGS) with Sanger Capillary Electrophoresis Sequencing Using innovative Bioinformatics Tools

Poster #1811
Next-generation sequencing (NGS) analyses have revolutionized our understanding of biological processes.  In many basic science or applied research studies, substantive insights have been made by comparing the primary DNA sequence of genes in different groups of subjects.  In such studies, researchers attempt to identify the role that variations of nucleotide sequence between the groups may play in disease susceptibility, disease progression, or phenotypic variation…

 

Allele-specific digital PCR to differentiate CYP2D6 heterozygous duplication events

Poster #2009
The drug metabolizer phenotype of the major P450 enzyme, CYP2D6, can be predicted by genetic analysis. The combination of full, reduced, or no function alleles, in addition to gene copy number, is used to determine ultra-rapid, extensive, intermediate, or poor metabolizer status.  Data from quantitative PCR (qPCR) experiments using TaqMan™ SNP Genotyping assays and TaqMan Copy Number assays can be translated to star allele diplotypes associated with metabolizer phenotypes…

  

Fusion Gene Detection and Gene Expression Analysis of Circulating RNA in Plasma

Poster #1910
The presence of circulating (cell-free) nucleic acids in the bloodstream of individuals with cancer offers a potential non-invasive approach to monitor disease status and guide treatment options. In the past years, increasing interests have been shown on circulating RNA, especially circulating small RNAs for their application as biomarkers for potential toward more effective diagnosis and prognosis…

 

Resolving false positive CYP2D6 genotype results: CYP2D7 variation is the culprit

Poster #2010
TaqMan™ genotyping assays are widely used to genotypeCYP2D6, which encodes a major drug metabolizing enzyme to guide therapy.  Assay design for CYP2D6, however, is arduous due to the presence of 2 pseudogenes, structural and copy number variation and numerous SNVs, some reflecting the wild-type sequence of the CYP2D7 pseudogene…

 

 

Well there you have it. Now, keep in mind, posters may be available and on display before and after they are presented at the meeting, but nothing quite beats listening to the author present their work and results and being able to ask questions, so catch as many in person as you can.

Tuning in from home? Stay tuned and download the posters as they are made available on Slideshare And you can keep up with what’s happening at the meeting by following us at @iontorrent @appliedbio and the hashtag #ASHG15