Search results for “annotation”

Tri-Con 2015 – just 5 days away!

Feb 10, 2015

In just 5 days, the 22nd International Molecular Medicine Tri-Conference (Tri-Con) will kick off in San Francisco. This year, Tri-Con will offer over 3,000 attendees 6 symposia, over 20 short courses, and 17 conference programs focused on drug discovery, genomics, diagnostics, and information technology surrounding, molecular medicine. Both Dr. Andreas Scherer, CEO…

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SVS, Population Genetics, and 1000 Genomes Phase 3

Jan 27, 2015

One frequent question I hear from SVS customers is whether whole exome sequence data can be used for principal components analysis (PCA) and other applications in population genetics. The answer is, “yes, but you need to be cautious.” What does cautious mean? Let’s take a look at the 1000 Genomes…

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VarSeq: A bioinformatics Swiss Army knife

Dec 5, 2014

If you’ve seen the recent webinars given by Gabe Rudy and Bryce Christensen, you’ve no doubt been impressed by the capabilities of VarSeq when it comes to annotation and filtering. However, we sometimes forget that the power that enables all this complex analysis can also be used in more mundane…

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Don’t miss the VarSeq user experience webcast tomorrow!

Nov 4, 2014

We are shortly approaching the public launch (November 5th!) of our first clinical product, VarSeq. We could not have predicted how well the market would accept VarSeq – but we couldn’t be happier! For those of you who have not yet seen our newest product in action, I invite you to…

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New Plugin for Ion Torrent Server

Oct 21, 2014

Golden Helix is proud to announce the release of the Golden Helix GenomeBrowse Plugin for Ion Torrent server. The new plug-in enables adding selected BAM files from Torrent Server reports directly into GenomeBrowse. The BAM files remain on the torrent server and are streamed from the server on demand using…

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Variant Notation: In simplicity we find complexity

Oct 9, 2014

Recently, I have been thinking a lot about Human Genome Variation Society (HGVS) notation — you know “G dot”, “P dot”, and “C dot”. HGVS has quickly become one of the most common ways to represent variants.  It’s no wonder that HGVS nomenclature is used so widely. It provides an…

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ASHG Happenings

Oct 8, 2014

It’s that time of year again. The mornings are chilly, the leaves are falling, and ASHG is right around the corner. This year will mark my very first ASHG and I am really looking forward to meeting some of the Golden Helix community! The team has been hard at work preparing…

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Updates to ClinVar and dbSNPs: Fresh charts for Cromonaughts!

Aug 28, 2014

I’m sitting in the Smithsonian Air and Space Museum basking in the incredible product of human innovation and the hard work of countless engineers. My volunteer tour guide started us off at the Wright brother’s fliers and made a point of saying it was only 65 years from lift off at Kitty…

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RefSeq Genes: Updated to NCBI Provided Alignments and Why You Care

Aug 14, 2014

You probably haven’t spent much time thinking about how we represent genes in a genomic reference sequence context. And by genes, I really mean transcripts since genes are just a collection of transcripts that produce the same product. But in fact, there is more complexity here than you ever really…

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SVS 8.2 – New Capabilities and Features

Aug 7, 2014

Earlier this year we completed the marriage of SVS and GenomeBrowse. When we released Version 8 of SVS we completed a major engineering task. A lot of things under the hood of both products had been changed to create a seamless experience for our users. The new and improved SVS…

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Have you ever had a bad experience with a VCF file?

Aug 5, 2014

“Who has ever had a bad experience with a VCF file?” I like to ask that question to the audience when I present data analysis workshops for Golden Helix. The question invariably draws laughter as many people raise their hands in the affirmative. It seems that just about everybody who…

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New MM-KBAC Method Explained

Jul 29, 2014

Last month, June 2014, we announced a new method that Golden Helix developed–the soon to be available MM-KBAC, a statistical advancement built into our genomic analysis software. MM-KBAC, or Mixed Model Kernel Based Adaptive Clustering combines the KBAC method developed by Lui and Leal (2010) with a random effects matrix…

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The added value of GenomeBrowse

Jul 17, 2014

We released GenomeBrowse 2.0 earlier this year, allowing users to review all types of genomic data. Since then, it has received rave reviews from thousands of users around the world. Essentially, it’s the Google Earth app for genomic data. GenomeBrowse allows a user to sift through vast amounts of genomic data,…

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GenomeBrowse 2.0 Is Here!

Apr 21, 2014

The developers at Golden Helix have raised the bar again with the release of GenomeBrowe 2.0. About a year and a half after the initial release, Golden Helix has expanded the functionality of GenomeBrowse to fulfill feature requests from both fundamental research investigators and translational scientists who require a visualization…

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The Next Chapter of Golden Helix: Our Launch of SVS 8

Mar 11, 2014

Today is a big day for us. Today we are announcing a major release of our flagship product, SNP & Variation Suite (SVS), to the general public. SVS 8 is a substantial improvement over the previous release in a number of dimensions (see detailed discussion on our What’s New page).…

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

Feb 5, 2014

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……

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SVS Workflow Automation Webcast: Your Questions Answered

Sep 20, 2013

Last week, we presented a webcast on Workflow Automation in SVS. If you were unable to attend, a recording of it is on our website. In this post I’ll respond to some of the questions we were unable to answer within the allotted time. Will you provide a link for…

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Follow Along on an Analyst’s Journey to Filter Whole Genome Data to Four Candidate Variants in SVS

Mar 14, 2013

Last week Khanh-Nhat Tran-Viet, Manager/Research Analyst II at Duke University, presented the webcast: Insights: Identification of Candidate Variants using Exome Data in Ophthalmic Genetics. (That link has the recording if you are interested in viewing.) In it, Khanh-Nhat highlighted tools available in SVS that might be under used or were…

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Meet Autumn Laughbaum: Biostatistician

Jan 9, 2013

As a senior studying statistics at Montana State University, I was fortunate to be granted the opportunity to intern with the development team at a local software company.  I was even more fortunate when this internship turned into full-time employment after I graduated. Working on a team with extremely talented…

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New Plant and Animal Genomes and Tracks Now Available!

Jan 3, 2013

Happy new year! We hope all of our readers, clients, and users had a great holiday season filled with friends and family! While Golden Helix did take a break from blogging in December, we’ve still been pretty busy bringing you new and exciting things. We’re pleased to announce the addition…

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