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Getting Genetics Done

Getting Things Done in Genetics & Bioinformatics Research
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GWASRSequencingBiologiaInglês
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Autor Stephen Turner

I'm working on a project using next-gen sequencing to fine-map a genetic association in a gene region. Now that I've sequenced the region in a small sample, I'm picking SNPs to genotype in a larger sample. When designing the genotyping assay the lab will need flanking sequence. This is easy to get for SNPs in dbSNP, but what about novel SNPs?

BioinformaticsLinuxRRecommended ReadingSoftwareBiologiaInglês
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Autor Stephen Turner

Lately I haven't written as many full length posts as usual, but here's a quick roundup of a few links I've shared on Twitter (@genetics_blog) over the last week: First, 23andMe is having a big DNA Day Sale ($108) for the kit + 1 year of their personal genome subscription service https://www.23andme.com/. Previously mentioned R IDE RStudio released a new beta (version 0.93) that includes several new features and bugfixes.

BiologiaInglês
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Autor Stephen Turner

I found a really nice tip on Postersession.com's blog about putting QR codes in your research posters (via @gw_dailyscan). QR codes, short for quick response, is a two-dimensional bar code that can be read by most smartphones with a camera.

GWASPLINKRBiologiaInglês
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Autor Stephen Turner

Hansong Wang, our biostats professor here at the Hawaii Cancer Center, generously gave me some R code that goes through a SNP annotation file (i.e. a mapfile) and selects SNPs that are at least a certain specified distance apart. You might want to do this if you're picking a subset of SNPs for PCA, for instance.

RSoftwareBiologiaInglês
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Autor Stephen Turner

I recently started using RStudio, the amazing new IDE for R. You can view all of RStudio's keyboard shortcuts by going to the help menu, but I made this printable reference for myself and thought I'd share it. I only included the Windows shortcuts, and I cut out all the obvious ones (Ctrl-S for save, Ctrl-O for open, etc) so it would fit neatly on one page.

GWASRSoftwareBiologiaInglês
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Autor Stephen Turner

The *ABEL suite of R packages and software for genetic analysis has grown substantially since the appearance of GenABEL and the previously mentioned ProbABEL R packages. There are now a handful of useful R packages and other software utilities facilitating genome-wide association studies, analysis of imputed data, meta-analysis, efficient data storage, prediction, parallelization, and mixed model methods.

BiologiaInglês
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Autor Unknown

Thanks to links from Sarah Pendergrass, I stumbled upon this awesome program for graph visualization and analysis called Gephi. It seems rather feature rich, with built in connectors to database systems, extensive graph coloring, layout, and rendering features, and several analysis tools.

Ggplot2RVisualizationBiologiaInglês
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Autor Stephen Turner

Abhijit over at Stat Bandit posted some nice code for making forest plots using ggplot2 in R. You see these lots of times in meta-analyses, or as seen in the BioVU demonstration paper. The idea is simple - on the x-axis you have the odds ratio (or whatever stat you want to show), and each line is a different study, gene, SNP, phenotype, etc.

AnnouncementsPolicyBiologiaInglês
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Autor Stephen Turner

Genetic Alliance is a nonprofit health advocacy organization that improves health through the authentic engagement of communities and individuals. This year, they are celebrating their 25th anniversary, and they're hosting a variety of events throughout the year, including monthly salons around the country and the 25th Anniversary Annual Conference in June.

ProductivityRSoftwareBiologiaInglês
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Autor Stephen Turner

Just saw the announcement of the availability of Rstudio, a new (free & open source) integrated development environment for R that works on Windows, Mac, and Linux. Judging from the screenshots, it looks like Rstudio supports syntax highlighting for Sweave &