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Golden Helix Inc.
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Enabling Precision Medicine
Enabling Precision Medicine

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Frequently Asked Questions: CNV analysis in VarSeq - The support team at Golden Helix is always here to help with your SVS and VarSeq needs. Often, we receive some excellent questions that should be shared with the rest of our users. This blog will answer some common questions we’ve been seeing lately regarding VarSeq CNV. I’ve noticed there is a version 2 of the CNV caller on Targeted Regions Algorithm, how has this changed from version 1 and does this alter my workflow? Our development te...
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Structural Variations – Part I - Human genetic variation makes us unique. On average, humans are to 99.9% similar to each other. Understanding in detail what the nature of the difference in our genetic make-up is all about allows us to assess health risks, and eventually enables Precision Medicine as we determine treatment choices. Furthermore, it enables scientists to better understand ancient human migrations. It gives us insights into how certain populations are related to each other. In...
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Clinical Workflows Webcast Q&A - In case you missed our live event yesterday, I wanted to share the Q&A session and a link to the webcast recording: An Exploration of Clinical Workflows in VarSeq. Question:You mentioned saving projects as templates, will it save GenomeBrowse plots in the project template or do you have to replot the data when opening the software? Answer: Yes, if you save your project as a template it will automatically pull in the GenomeBrowse information.  Whether you are...
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Our customer’s recent publications! - Summer is in full swing, and we are kicking off July with an excellent round of articles our customer’s published citing our SVS software. Check out the snippets below, there may be one in there that peaks your interest! Curtis Van Tassell of the USDA and colleagues published Whole genome structural analysis of Caribbean hair sheep reveals quantitative link to West African ancestry in PLOS One which established the first quantifiable link between Caribb...
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GHI’s Annual T-Shirt Design Competition - We’re gearing up for ASHG and kicking off our annual T-Shirt Design Competition! This one goes out to all the clever, witty genomic jokesters out there … here’s your chance to cash in on those DNA punchlines you’ve been practicing! Here’s how the T-Shirt Design Competition works: Draw it out or write it down; we accept either illustrated or written designs. Email your designs to marketing@goldenhelix.com. Golden Helix, Inc. will select a number of f...
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Happy 4th of July! - We wanted to wish you a happy 4th of July from the Golden Helix team. Hard to believe the first half of the year is already over, but we are on to bigger and better things! We hope you enjoy the long holiday! Stay tuned for exciting updates in the months to come. The post Happy 4th of July! appeared first on Our 2 SNPs...®.
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Webcast: An Exploration of Clinical Workflows in VarSeq - Our July webcast presentation will be focused on clinical workflows in VarSeq. We wanted to share the full details with you and hope you are able to attend! Wednesday, July 12th 12:00 PM EST This month’s webcast is a VarSeq exploration, featuring several example workflows and helpful features in VarSeq that can be used in the clinic. We will discuss options for conducting a comprehensive gene panel analysis for cancer or hereditary d...
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Understanding Your GWAS Signal with LD Scores - When studying complex diseases that may have multi-genic contributions from across the genome, it is not uncommon to see what may appear like elevated correlation between your trait or other test variable and the SNPs across the genome. The problem is at first glance you won’t be able to tell if this is due to a population structure in your data that is aligned with your trait (on no!), or due to the polygenic nature of your trait raising the ...
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CNV Caller Updates and More with VarSeq 1.4.5 - We have been heads down doing the detailed and careful work to improve our CNV caller algorithm in the past three months since our we launched our Exome capable CNV caller and are very excited about the massive step forward we have made with the VarSeq 1.4.5 release. Additionally, we have added the all new Whole Genome large-event caller capable of calling large events on whole genomes (including the cheap ultra-low read depth variety), as wel...
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Calling Cytogenetic CNVs from Shallow Whole Genomes - Low read depth? Great! We are excited to introduce our new CNV calling algorithm for low and ultra-low read depth Whole Genome Sequencing (WGS) data. This algorithm is designed to call large cytogenetic events with high confidence from low read depth whole genome data, with as few as one million aligned reads or 0.02x coverage. The low sequencing cost of these low read genomes, combined with the ease and efficiency of our algorithm, make...
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