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Addressing False Positive Variants Arising from Pseudogenes
Risha Govind1,2, Sam Wilkinson1,3, Nicola Whiffin1,2, Shibu John1,2, Rachel J. Buchan1,2, Elizabeth Edwards1,2, Deborah J. Morris-Rosendahl1,3, James S. Ware1,2, P.J. Barton1,2, Stuart A. Cook1,2

Clinical genetic testing has been transformed in recent years by the introduction of Next-Generation Sequencing (NGS).

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PredRet: Prediction of Retention Time by Direct Mapping between Multiple Chromatographic Systems
Jan Stanstrup, Steffen Neumann, Urška Vrhovšek

Retention time (RT) information is under-utilized in LC-MS based metabolomics and sharing of RTs between systems is not currently possible. PredRet is a new system that allows highly accurate mapping and prediction of RTs between LC systems.

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Predicting Regioselectivityand Labilityof Cytochrome P450 Metabolism using Quantum Mechanical Simulations
Tyzack, Nicholas Foster, Peter Hunt, Matthew Segall

Predicting Regioselectivity and Lability of Cytochrome P450 Metabolism using Quantum Mechanical Simulations

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The Power Decoder simulator for the evaluation of pooled shRNA screen performance
Jesse Stombaugh, Abel Licon, Žaklina Strezoska, Joshua Stahl, Sarah Bael Anderson, Michael Banos, Anja van Brabant Smith, Amanda Birmingham, Annaleen Vermeulen

Power Decoder (written in R and Python) simulates shRNA pooled screening experiments in silico to allow for the estimation of a screen’s statistical power. Populations of shRNAs were engineered in such a way that the magnitude of depletion and enrichment was known, then using the negative binomial distribution, an in silico model was developed to successfully resemble data from an actual laboratory experiment.

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Knockdown of long noncoding RNAs in breast cancer
1 Jennii Luu, 2 Jesper Maag, 1 Yanny Handoko, 3 Richard Redvers, 3,4 Robin L. Anderson, 5 Maren M. Gross , 2 Marcel E. Dinger, and 1,3 Kaylene J. Simpson 1 Victorian Centre for Functional Genomics, Peter MacCallum Cancer Centre; 2 Genome Informatics, The Kinghorn Cancer Centre, The Garvan Institute of Medical Research; 3 Metastasis Research Laboratory, Peter MacCallum Cancer Centre, 4 Sir Peter MacCallum Department of Oncology, University of Melbourne;

RNAi global collaboration study using Lincode siRNA in a primary screen of tumor and nontumor breast cell lines. Hundreds of lncRNAs are found to affect viability and cell morphology of breast cancer. Presented at Keystone Symposia on Long Noncoding RNAs: From Evolution to Function, Mar 15 - Mar 20, 2015.

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Specificity of highly potent miRNA inhibitors
Barbara Robertson, Andrew Dalby, Yuriy Fedorov, Jon Karpilow, Anastasia Khvorova1, Devin Leake, Annaleen Vermeulen

miRNA inhibitors are invaluable tools for elucidating the roles of miRNAs. However, potent inhibitors may also affect other miRNAs. To understand the potential cross-reactivity of miRNA inhibitors, various miRNA inhibitor designs were systematically tested. We demonstrate that mismatches both within and outside the seed region of the miRNA interfere with inhibition. Our findings indicate that features important for natural miRNA target recognition are also important for inhibitor specificity.

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Alternative miRNA design for therapeutic RNAi applications
Anja van Brabant Smith, Barb Robertson, Annaleen Vermeulen, Christina Yamada, Angela Reynolds, Anastasia Khvorova, Devin Leake

For in vivo applications, the design of miRNA inhibitors and miRNA mimics must be optimized for stability and potency. However, stabilized miRNA mimic molecules can lose functionality compared to standard miRNA mimic molecules due, in part, to the activity of the stabilized passenger strand acting as a miRNA inhibitor. We discuss how mismatches affect the activity of the stabilized miRNA mimics, perhaps by generating a passenger strand that is less functional as an inhibitor molecule.

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Cas9 driven by an optimal promoter improves gene editing in eukaryotic cell lines when paired with synthetic crRNA and tracrRNA
Amanda Haupt, Emily Anderson, Žaklina Strezoska, Hidevaldo Machado, Shawn McClelland, Maren Mayer, Adam Rocker, Annaleen Vermeulen, Amanda Birmingham, Melissa Kelley, Anja Smith

Presented here are results on the efficiency of using synthetic crRNA and tracrRNA to introduce gene editing events when co-transfected with a plasmid expressing Cas9. We explored the use of antibiotic and fluorescence activated cell sorting (FACS) methods for enrichment of cells that have undergone gene editing, and the use of multiple promoters to increase efficiency of gene editing with Cas9 and synthetic tracrRNA and crRNAs.

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Specificity and functionality of microRNA inhibitors
Barbara Robertson, Andrew Dalby, Jon Karpilow, Anastasia Khvorova, Devin Leake and Annaleen Vermeulen

Our findings indicate that features important for natural miRNA target recognition also appear to be important for inhibitor specificity. Understanding the specificity of inhibitors allows for better interpretation of inhibitor activity in endogenous systems.

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Identification of microRNA targets using microRNA modulation techniques and gene expression arrays
Emily M. Anderson, Maren Mayer, Kevin Sullivan, Barbara Robertson, Žaklina Strezoska, Annaleen Vermeulen, and Devin Leake

By examining the overlap of messages down-regulated by miRNA mimics and up-regulated by miRNA inhibitors, we robustly identify miRNA-regulated messages, many of which have canonical seed matches and some which are not identied by standard target prediction programs.

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Scientific News
New Database for Sharing MS Clinical Trial Data
A new database containing nearly 2500 patient records from the placebo arms of nine multiple sclerosis (MS) clinical trials is now available for research by qualified investigators.
‘Precision Prevention’ for Colorectal Cancer
New risk prediction model — not yet ready for clinical use — incorporates genetic, lifestyle and environmental risk factors.
Characterizing Cancerous Genomic Variations
Tested on large tumor genomics database, REVEALER method allows researchers to connect genomics to cell function.
Uncovering Hidden Genomic Alterations that Drive Cancers
Tested on large tumor genomics database, REVEALER method allows researchers to connect genomics to cell function.
Spotting DNA Repair Genes Gone Awry
Ludwig researchers develop a two-pronged approach for identifying genes responsible for fixing DNA damage that can trigger cancer when compromised.
Interpreting “Dark Matter” DNA
Scientists at the Gladstone Institutes have invented a new way to read and interpret the human genome.
A Programming Language for Living Cells
New language lets researchers design novel biological circuits.
The Epigenetics of Childhood Cancer
Qlucore software enables researchers to more easily study the genetic influences behind childhood cancer.
Mining Whole Exome Data to Improve Cancer Therapies
New tool interprets the raw data of whole exome tumor sequencing and then matches the cancer’s unique genetics to FDA-approved targeted treatments.
Pittcon 2016: Accelerating Innovation And Enhancing Productivity With Technology
Collaboration and externalization of data highlight evolving lab operations.
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