Fun in the Sun – Headed to Tri-Con and AGBT next week

Weather.com currently says it feels like -24 degrees outside (yes, that’s negative) here in Bozeman, Montana. Which is why I’m more than a little jealous of Gabe Rudy and Andreas Scherer who get to go to San Francisco and Marco Island next week, respectively, where the weather is little more… well, let’s say… reasonable.

Andreas will be headed to Marco Island, Florida for AGBT this year on February 12-15. Consistently surveyed as one of the best general genomics meetings, AGBT features four packed days of networking and sessions on topics ranging from technology advancements to methodology development. If you’re going to AGBT this year, make sure to reach out to Andreas via LinkedIn or Twitter – he’d love the chance to meet.

And on the other side of the country, Gabe will be at Molecular Med Tri-Con 2014 from February 9-14 in San Francisco, California. This year Gabe has been invited to give a short course on NGS assembly and alignment as well as a session in the clinical sequencing portion called “Interpreting My DTC Exomes Using Public Access Clinical Databases” (details for both below). Those who have heard Gabe present know that both sessions are sure to be chock-full of insights and practical implementation techniques for sequence data. Make sure to carve out time to go to both! (And say “hi” to Gabe as well!)

See you there!

Tri-Con Short Course
SC 10: NGS Assembly and Alignment
Title: Knowing Your NGS Upstream: Alignment and Variants
Date/Time: Sunday, February 9th | 5:30 – 9:30 pm
http://www.triconference.com/mmtc_content.aspx?id=132357&libID=132305

The utility of Next Generation Sequencing data has proven itself for research and clinical use. Fundamental to any analysis based on DNA-Seq variant call data is an appreciation of the complexity and shortcomings of the upstream analysis: from the machine generated base calls, through alignment, recalibration, local InDel re-alignment and variant calling.

In this course, I provide an overview of the bioinformatics landscape of secondary analysis without assuming a bioinformatics background from the attendee. In reviewing the strengths and weakness of tools and pipelines, we will cover common sources of false-positives, and through interactive examples, learn to spot them in a genome browser. Finally, we will cover what to expect and not expect as deliverables from a sequence-as-a-service provider or core lab.

Tri-Con Clinical Sequencing: Translating NGS into Practice
Track: Clinical-Grade Sequencing and Data Analysis
Title: Interpreting My DTC Exomes Using Public Access Clinical Databases
Date/Time: Wednesday, February 12th | 5:05 – 5:35 pm
http://www.triconference.com/mmtc_content.aspx?id=130024

23andMe provided through a limited pilot the delivery of uninterpreted exomes in 2012. In this talk, I use GenomeBrowse and publicly available clinical databases such as ClinVar and OMIM, as well as many other integrative genomic annotations, to interpret the exomes of myself, wife and son. Recent improvements in alignment, variant calling and public annotation sources may be able to take my research grade exome to a clinical grade interpretation.

Mary Makris

About Mary Makris

Mary Makris joined Golden Helix in March 2015 and is the Marketing & Operations Manager. Mary graduated from the University of Montana in May 2014 with a bachelor's degree in Marketing and a minor in Psychology. She is responsible for executing marketing strategies, maintaining the company's social media and web presence, and assisting in all other areas of the marketing department. In her free time, she enjoys playing soccer, biking, fishing, and being crafty.

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