“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 has ever worked VCF files has encountered some sort of… Read more »
Last month, June 2014, we announced a new method that Golden Helix developed–the soon to be available MM-KBAC. MM-KBAC, or Mixed Model Kernel Based Adaptive Clustering combines the KBAC method developed by Lui and Leal (2010) with a random effects matrix to adjust for relationships between samples. The KBAC algorithm takes a binary dependent variable and transformations are used to convert… Read more »
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, and make it easy to focus on a single part… Read more »
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 tool to gain key insight into their results. The Golden… Read more »
Science is a collaborative endeavor. Rarely is it in isolation that new discovery takes place. Unfortunately, using a computer to perform analysis is almost always a solitary activity. Sharing what you have found with members of your team often means squeezing around a small 13” glowing rectangle. While looking at the same screen has its place, being able to save… Read more »
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). We’ve come a long way. Over five years ago, in… Read more »
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… Read more »
Tis the season of quiet, productive hours. I’ve been spending a lot of mine thinking about file formats. Actually, I’ve been spending mine implementing a new one, but more on that later. File formats are amazingly important in big data science. In genomics, it is hard not to be awed by how successful the BAM file format is. I thought… Read more »
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: http://www.goldenhelix.com/Events/recordings/making-ngs-data-analysis-clinically-practical/index.html 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 the software used in the webcast? I used Golden… Read more »
Presenter: Dr. Bryce Christensen, Statistical Geneticist Date: July 24, 2013 Duration: 60 Minutes Abstract Golden Helix GenomeBrowse™, a free visualization tool for all types of sequence data, was introduced in 2012 to broad acclaim. Researchers using GenomeBrowse discovered a product far beyond the status quo with seamless navigation of sequence alignments and other genomic data using a fluid, fast, and… Read more »
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 recently updated. These tools were used in his last three… Read more »
My investigation into my wife’s rare autoimmune disease I recently got invited to speak at the plenary session of AGBT about my experience in receiving and interpreting my Direct to Consumer (DTC) exomes. I’ve touched on this before in my post discussing my own exome and a caution for clinical labs setting up a GATK pipeline based on buggy variants… Read more »
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 individuals, I realized the significant impact our company makes through… Read more »
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 of genome maps and annotation tracks for two new plant… Read more »
In preparation for a webcast I’ll be giving on Wednesday on my own exome, I’ve been spending more time with variant callers and the myriad of false-positives one has to wade through to get to interesting, or potentially significant, variants. So recently, I was happy to see a message in my inbox from the 23andMe exome team saying they had… Read more »
Recently, I have been spending some time analyzing real patient data. I’m preparing for a webcast I’ll be giving in which I will walk through the process of replicating the findings of Dr. Gholson Lyon‘s study on the novel disease diagnosis he named Ogden Syndrome. Being so close to data that comes directly from clinical settings got me thinking about… Read more »
Since Dr. Ken Kaufman gave his webcast on Identifying Candidate Functional Polymorphisms in SVS, we’ve been working with Dr. Kaufman to simplify and automate many of the steps in his workflow. I touched on this in my last blog post, and I’m excited to report that with Ken’s help, we’ve been able to simplify the workflow even more. In particular… Read more »
It has now been about a year since Illumina and Affymetrix announced their respective exome genotyping arrays. Both products were launched with ambitious visions of how they would enable researchers to learn significantly more about the cause of human diseases. Sales of the Illumina chip exceeded expectations, and the company said that it sold enough exome chips through the first… Read more »
As first announced in October 2011 and previewed in a blog post last month, Golden Helix has been hard at work for the last year developing a free genome browser called GenomeBrowseTM. We are now beyond excited to announce that GenomeBrowse will be available to the public on September 12th on our website. (Did we mention it’s free?) GenomeBrowse raises… Read more »
I recently curated the latest population frequency catalog from the 1000 Genomes Project onto our annotation servers, and I had very high hopes for this track. First of all, I applaud 1000 Genomes for the amount of effort they have put in to providing the community with the largest set of high-quality whole genome controls available. My high hopes are… Read more »
