Tuesday, November 1, 2016

View ASHG posters from the T2D Knowledge Portal team

Did you miss the American Society of Human Genetics 2016 Annual Meeting last month in Vancouver? Or did you attend, but weren’t able to get to our posters among the hundreds that were there? 


Now you can catch up on everything you missed from the Portal team. We’ve uploaded our posters to the open access publishing platform F1000Research, where you can view or download them. The Portal team presented four posters:


1. Automated, scalable quality control of heterogeneous exome sequence data. This poster presented by Ryan Koesterer, a member of the Analysis Team of the Accelerating Medicines Partnership Data Coordinating Center (AMP-DCC), describes a new, scalable method for quality control for exome sequence data, applied to data before they are incorporated into the Portal. 

Citation: Koesterer R, von Grotthuss M, Flannick J et al. Automated, scalable quality control of heterogeneous exome sequence data [v1; not peer reviewed]. F1000Research 2016, 5:2609 (poster) (doi: 10.7490/f1000research.1113354.1)


2. The Type 2 Diabetes Knowledge Portal: a paradigm for the democratization of human genetic information. This poster, from Portal content and community manager Maria Costanzo, presents an introduction to the Portal: its purpose, its content, and what kinds of questions it allows you to ask.


Citation: Costanzo MC and Accelerating Medicines Partnership: Type 2 Diabetes. The type 2 diabetes knowledge portal: a paradigm for the democratization of human genetic information [v1; not peer reviewed]. F1000Research 2016, 5:2607 (poster) (doi: 10.7490/f1000research.1113352.1)


3. A software platform facilitating community analyses of genetic datasets for complex disease. This poster from Benjamin Alexander, on the Portal software engineering team, describes the tools in the Portal that allow you to do both forward and reverse genetic analysis and even perform custom association analysis.

Citation: Alexander B, Duby M, Sanders M et al. A software platform facilitating community analyses of genetic datasets for complex disease [v1; not peer reviewed]. F1000Research 2016, 5:2608 (poster) (doi: 10.7490/f1000research.1113353.1)


4. Mapping variants to amino-acid changes in three-dimensional protein space improves aggregate association test power and suggests mechanisms of action. This poster, presented by Portal computational biologist Marcin von Grotthuss, illustrates a new method for evaluating the significance of variants by considering the protein structural context of the amino acids they encode. A long-term goal is to incorporate this analysis into the Portal.


von Grotthuss M, Florez JC, Flannick J et al. Mapping variants to amino-acid changes in three-dimensional protein space improves aggregate association test power and suggests mechanisms of action [v1; not peer reviewed]. F1000Research 2016, 5:2610 (poster) (doi: 10.7490/f1000research.1113355.1)


We hope you find these posters informative! Please let us know if you have any questions or suggestions.

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